nsv6624012
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,416
- 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: 156 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624012 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nsv6624012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283090 | deletion | OSC2423 | SNP array | Probe signal intensity | nssv18283706, nssv18283707, nssv18284018 |
| nssv18283884 | deletion | OSC2333 | SNP array | Probe signal intensity | nssv18282966, nssv18283598, nssv18283882 |
| nssv18286775 | deletion | OSC3058 | SNP array | Probe signal intensity | nssv18287671 |
| nssv18287081 | deletion | OSC3114 | SNP array | Probe signal intensity | 5 |
| nssv18287564 | deletion | OSC2986 | SNP array | Probe signal intensity | 10 |
| nssv18289104 | deletion | OSC3393 | SNP array | Probe signal intensity | 5 |
| nssv18290712 | deletion | OSC3704 | SNP array | Probe signal intensity | 9 |
| nssv18290907 | deletion | OSC3607 | SNP array | Probe signal intensity | nssv18290328, nssv18290329 |
| nssv18291883 | deletion | OSC3898 | SNP array | Probe signal intensity | 6 |
| nssv18292131 | deletion | OSC0035 | SNP array | Probe signal intensity | 10 |
| nssv18292554 | deletion | OSC3896 | SNP array | Probe signal intensity | 11 |
| nssv18294643 | deletion | OSC4292 | SNP array | Probe signal intensity | 8 |
| nssv18297465 | deletion | OSC4769 | SNP array | Probe signal intensity | 5 |
| nssv18298779 | duplication | OSC5052 | SNP array | Probe signal intensity | nssv18297865, nssv18298435 |
| nssv18313030 | deletion | OSC0810 | SNP array | Probe signal intensity | 9 |
| nssv18322312 | deletion | OSC1358 | SNP array | Probe signal intensity | 5 |
| nssv18322711 | deletion | OSC1375 | SNP array | Probe signal intensity | nssv18322710, nssv18322980, nssv18323256 |
| nssv18322869 | deletion | OSC1486 | SNP array | Probe signal intensity | 7 |
| nssv18324274 | deletion | OSC1640 | SNP array | Probe signal intensity | 6 |
| nssv18324545 | deletion | OSC1632 | SNP array | Probe signal intensity | 5 |
| nssv18325505 | deletion | OSC0192 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283090 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18283884 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18286775 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18287081 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18287564 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18289104 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18290712 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18290907 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18291883 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18292131 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18292554 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18294643 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18297465 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18298779 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18313030 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18322312 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18322711 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18322869 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18324274 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18324545 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18325505 | Remapped | Perfect | NC_000017.11:g.(?_ 15706488)_(1571790 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,706,488 | 15,717,903 |
| nssv18283090 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18283884 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18286775 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18287081 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18287564 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18289104 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18290712 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18290907 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18291883 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18292131 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18292554 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18294643 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18297465 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18298779 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18313030 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18322312 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18322711 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18322869 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18324274 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18324545 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 | ||
| nssv18325505 | Submitted genomic | NC_000017.10:g.(?_ 15609802)_(1562121 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,609,802 | 15,621,217 |