nsv6630477
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,786
- 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: 396 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630477 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nsv6630477 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286217 | duplication | OSC2904 | SNP array | Probe signal intensity | 5 |
| nssv18286624 | deletion | OSC2952 | SNP array | Probe signal intensity | 6 |
| nssv18287626 | duplication | OSC3025 | SNP array | Probe signal intensity | 11 |
| nssv18289555 | duplication | OSC3549 | SNP array | Probe signal intensity | 8 |
| nssv18289767 | deletion | OSC3458 | SNP array | Probe signal intensity | nssv18289440, nssv18289441, nssv18289766 |
| nssv18289901 | duplication | OSC3553 | SNP array | Probe signal intensity | 10 |
| nssv18291795 | duplication | OSC3834 | SNP array | Probe signal intensity | 8 |
| nssv18292755 | duplication | OSC4015 | SNP array | Probe signal intensity | 11 |
| nssv18293148 | duplication | OSC4131 | SNP array | Probe signal intensity | 8 |
| nssv18293688 | deletion | OSC4039 | SNP array | Probe signal intensity | 10 |
| nssv18294485 | deletion | OSC4433 | SNP array | Probe signal intensity | 13 |
| nssv18299676 | deletion | OSC0539 | SNP array | Probe signal intensity | 6 |
| nssv18321529 | deletion | OSC1201 | SNP array | Probe signal intensity | nssv18321530, nssv18321796, nssv18321797 |
| nssv18325929 | duplication | OSC1958 | SNP array | Probe signal intensity | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286217 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18286624 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18287626 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18289555 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18289767 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18289901 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18291795 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18292755 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18293148 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18293688 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18294485 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18299676 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18321529 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18325929 | Remapped | Perfect | NC_000005.10:g.(?_ 1293652)_(1308437_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,293,652 | 1,308,437 |
| nssv18286217 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18286624 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18287626 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18289555 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18289767 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18289901 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18291795 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18292755 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18293148 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18293688 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18294485 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18299676 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18321529 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 | ||
| nssv18325929 | Submitted genomic | NC_000005.9:g.(?_1 293767)_(1308552_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,293,767 | 1,308,552 |