nsv6630879
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,707
- 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: 329 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 329 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 76,790,772 | 76,833,478 |
nsv6630879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 76,086,597 | 76,129,303 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18284174 | duplication | OSC2530 | SNP array | Probe signal intensity | nssv18284173, nssv18284779, nssv18284780 |
nssv18295568 | duplication | OSC4541 | SNP array | Probe signal intensity | 6 |
nssv18324971 | duplication | OSC1923 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18284174 | Remapped | Perfect | NC_000005.10:g.(?_ 76790772)_(7683347 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,790,772 | 76,833,478 |
nssv18295568 | Remapped | Perfect | NC_000005.10:g.(?_ 76790772)_(7683347 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,790,772 | 76,833,478 |
nssv18324971 | Remapped | Perfect | NC_000005.10:g.(?_ 76790772)_(7683347 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,790,772 | 76,833,478 |
nssv18284174 | Submitted genomic | NC_000005.9:g.(?_7 6086597)_(76129303 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 76,086,597 | 76,129,303 | ||
nssv18295568 | Submitted genomic | NC_000005.9:g.(?_7 6086597)_(76129303 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 76,086,597 | 76,129,303 | ||
nssv18324971 | Submitted genomic | NC_000005.9:g.(?_7 6086597)_(76129303 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 76,086,597 | 76,129,303 |