nsv6633217
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,240
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 390 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 75 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6633217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nsv6633217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281886 | duplication | OSC2234 | SNP array | Probe signal intensity | 5 |
nssv18282966 | duplication | OSC2333 | SNP array | Probe signal intensity | nssv18283598, nssv18283882, nssv18283884 |
nssv18285869 | duplication | OSC2924 | SNP array | Probe signal intensity | 13 |
nssv18285908 | duplication | OSC2951 | SNP array | Probe signal intensity | 8 |
nssv18289459 | duplication | OSC3472 | SNP array | Probe signal intensity | 5 |
nssv18290581 | duplication | OSC3615 | SNP array | Probe signal intensity | 9 |
nssv18291196 | duplication | OSC3595 | SNP array | Probe signal intensity | 8 |
nssv18297588 | duplication | OSC4871 | SNP array | Probe signal intensity | 7 |
nssv18297596 | deletion | OSC4875 | SNP array | Probe signal intensity | nssv18297595, nssv18296707, nssv18297594 |
nssv18297932 | deletion | OSC5095 | SNP array | Probe signal intensity | nssv18298824, nssv18298825 |
nssv18298522 | duplication | OSC5116 | SNP array | Probe signal intensity | nssv18298842, nssv18298878 |
nssv18299770 | duplication | OSC5354 | SNP array | Probe signal intensity | 6 |
nssv18300501 | deletion | OSC5472 | SNP array | Probe signal intensity | nssv18300257, nssv18300854 |
nssv18301378 | duplication | OSC5616 | SNP array | Probe signal intensity | 13 |
nssv18301732 | deletion | OSC5703 | SNP array | Probe signal intensity | nssv18301733 |
nssv18301761 | duplication | OSC5722 | SNP array | Probe signal intensity | 9 |
nssv18302021 | duplication | OSC5647 | SNP array | Probe signal intensity | 7 |
nssv18302348 | duplication | OSC5691 | SNP array | Probe signal intensity | nssv18302350, nssv18301720, nssv18302349 |
nssv18306278 | duplication | OSC0065 | SNP array | Probe signal intensity | 6 |
nssv18307987 | duplication | OSC0718 | SNP array | Probe signal intensity | 6 |
nssv18317017 | deletion | OSC0875 | SNP array | Probe signal intensity | 5 |
nssv18321815 | duplication | OSC1209 | SNP array | Probe signal intensity | 10 |
nssv18322041 | duplication | OSC1167 | SNP array | Probe signal intensity | 10 |
nssv18322104 | duplication | OSC1217 | SNP array | Probe signal intensity | 9 |
nssv18324343 | duplication | OSC1686 | SNP array | Probe signal intensity | 5 |
nssv18325062 | duplication | OSC0182 | SNP array | Probe signal intensity | 5 |
nssv18325457 | deletion | OSC1812 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281886 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18282966 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18285869 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18285908 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18289459 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18290581 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18291196 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18297588 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18297596 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18297932 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18298522 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18299770 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18300501 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18301378 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18301732 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18301761 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18302021 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18302348 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18306278 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18307987 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18317017 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18321815 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18322041 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18322104 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18324343 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18325062 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18325457 | Remapped | Perfect | NC_000009.12:g.(?_ 133065046)_(133080 285_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,065,046 | 133,080,285 |
nssv18281886 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18282966 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18285869 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18285908 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18289459 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18290581 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18291196 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18297588 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18297596 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18297932 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18298522 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18299770 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18300501 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18301378 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18301732 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18301761 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18302021 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18302348 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18306278 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18307987 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18317017 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18321815 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18322041 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18322104 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18324343 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18325062 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 | ||
nssv18325457 | Submitted genomic | NC_000009.11:g.(?_ 135940433)_(135955 672_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,940,433 | 135,955,672 |