nsv6623943
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,525
- 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: 325 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 62 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6623943 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nsv6623943 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18296899 | deletion | OSC4840 | SNP array | Probe signal intensity | nssv18296898 |
nssv18298210 | deletion | OSC5131 | SNP array | Probe signal intensity | 5 |
nssv18298249 | deletion | OSC5166 | SNP array | Probe signal intensity | 12 |
nssv18298610 | deletion | OSC4944 | SNP array | Probe signal intensity | 11 |
nssv18299329 | deletion | OSC5272 | SNP array | Probe signal intensity | 14 |
nssv18299613 | deletion | OSC5224 | SNP array | Probe signal intensity | nssv18299030, nssv18299614, nssv18299615 |
nssv18299880 | deletion | OSC5201 | SNP array | Probe signal intensity | nssv18299002, nssv18299574, nssv18299879 |
nssv18300135 | deletion | OSC5376 | SNP array | Probe signal intensity | 6 |
nssv18300276 | deletion | OSC5484 | SNP array | Probe signal intensity | 7 |
nssv18300386 | deletion | OSC5571 | SNP array | Probe signal intensity | 8 |
nssv18300627 | deletion | OSC5570 | SNP array | Probe signal intensity | 7 |
nssv18300687 | deletion | OSC5609 | SNP array | Probe signal intensity | 14 |
nssv18300701 | deletion | OSC5619 | SNP array | Probe signal intensity | 5 |
nssv18300709 | deletion | OSC5623 | SNP array | Probe signal intensity | nssv18300707, nssv18300708, nssv18301984 |
nssv18300826 | deletion | OSC5454 | SNP array | Probe signal intensity | 7 |
nssv18301223 | deletion | OSC5529 | SNP array | Probe signal intensity | nssv18300325, nssv18300930 |
nssv18302059 | deletion | OSC5672 | SNP array | Probe signal intensity | nssv18301447, nssv18301694, nssv18301693 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18296899 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18298210 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18298249 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18298610 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18299329 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18299613 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18299880 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300135 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300276 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300386 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300627 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300687 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300701 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300709 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18300826 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18301223 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18302059 | Remapped | Perfect | NC_000016.10:g.(?_ 72055841)_(7207436 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 72,055,841 | 72,074,365 |
nssv18296899 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18298210 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18298249 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18298610 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18299329 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18299613 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18299880 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300135 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300276 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300386 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300627 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300687 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300701 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300709 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18300826 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18301223 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 | ||
nssv18302059 | Submitted genomic | NC_000016.9:g.(?_7 2089740)_(72108264 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,089,740 | 72,108,264 |