nsv6625811
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,957
- 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: 1165 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1165 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nsv6625811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281812 | duplication | OSC2173 | SNP array | Probe signal intensity | nssv18281811, nssv18282122, nssv18282446 |
| nssv18282213 | deletion | OSC2243 | SNP array | Probe signal intensity | nssv18282212, nssv18282533, nssv18282826 |
| nssv18283793 | deletion | OSC2277 | SNP array | Probe signal intensity | 7 |
| nssv18284716 | deletion | OSC2488 | SNP array | Probe signal intensity | nssv18283436, nssv18284112, nssv18284717 |
| nssv18285367 | duplication | OSC2714 | SNP array | Probe signal intensity | 8 |
| nssv18285496 | duplication | OSC2805 | SNP array | Probe signal intensity | 7 |
| nssv18285700 | deletion | OSC2807 | SNP array | Probe signal intensity | nssv18286087, nssv18286088 |
| nssv18285967 | deletion | OSC2709 | SNP array | Probe signal intensity | 10 |
| nssv18285982 | deletion | OSC2719 | SNP array | Probe signal intensity | 8 |
| nssv18286260 | deletion | OSC2697 | SNP array | Probe signal intensity | 5 |
| nssv18286410 | duplication | OSC2806 | SNP array | Probe signal intensity | 7 |
| nssv18289969 | deletion | OSC3391 | SNP array | Probe signal intensity | 10 |
| nssv18293792 | deletion | OSC4104 | SNP array | Probe signal intensity | 8 |
| nssv18298558 | deletion | OSC5145 | SNP array | Probe signal intensity | 6 |
| nssv18299367 | deletion | OSC5302 | SNP array | Probe signal intensity | 7 |
| nssv18300520 | deletion | OSC5490 | SNP array | Probe signal intensity | nssv18301166 |
| nssv18300570 | deletion | OSC5525 | SNP array | Probe signal intensity | nssv18300928 |
| nssv18300919 | deletion | OSC5519 | SNP array | Probe signal intensity | 9 |
| nssv18301167 | deletion | OSC5491 | SNP array | Probe signal intensity | 7 |
| nssv18302923 | deletion | OSC0608 | SNP array | Probe signal intensity | 9 |
| nssv18304048 | duplication | OSC0648 | SNP array | Probe signal intensity | 7 |
| nssv18307502 | duplication | OSC0697 | SNP array | Probe signal intensity | 7 |
| nssv18311136 | duplication | OSC0771 | SNP array | Probe signal intensity | 5 |
| nssv18320947 | deletion | OSC1043 | SNP array | Probe signal intensity | nssv18320948 |
| nssv18324444 | deletion | OSC1560 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281812 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18282213 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18283793 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18284716 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18285367 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18285496 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18285700 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18285967 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18285982 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18286260 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18286410 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18289969 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18293792 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18298558 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18299367 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18300520 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18300570 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18300919 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18301167 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18302923 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18304048 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18307502 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18311136 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18320947 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18324444 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694679 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,946,792 |
| nssv18281812 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18282213 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18283793 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18284716 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18285367 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18285496 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18285700 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18285967 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18285982 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18286260 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18286410 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18289969 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18293792 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18298558 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18299367 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18300520 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18300570 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18300919 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18301167 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18302923 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18304048 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18307502 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18311136 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18320947 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 | ||
| nssv18324444 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727328 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,273,287 |