nsv6626138
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:88,432
- 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: 1737 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1737 SVs from 105 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6626138 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nsv6626138 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282541 | deletion | OSC2248 | SNP array | Probe signal intensity | nssv18282219, nssv18282220, nssv18282540 |
nssv18287879 | deletion | OSC3174 | SNP array | Probe signal intensity | 12 |
nssv18288552 | deletion | OSC3240 | SNP array | Probe signal intensity | 7 |
nssv18289470 | deletion | OSC3479 | SNP array | Probe signal intensity | 6 |
nssv18289503 | deletion | OSC3505 | SNP array | Probe signal intensity | nssv18289256, nssv18289504 |
nssv18291436 | deletion | OSC3761 | SNP array | Probe signal intensity | 5 |
nssv18293012 | deletion | OSC4197 | SNP array | Probe signal intensity | nssv18293013, nssv18293908 |
nssv18294546 | deletion | OSC4470 | SNP array | Probe signal intensity | 10 |
nssv18295035 | deletion | OSC4339 | SNP array | Probe signal intensity | 6 |
nssv18300608 | deletion | OSC5559 | SNP array | Probe signal intensity | 8 |
nssv18301509 | deletion | OSC5716 | SNP array | Probe signal intensity | 6 |
nssv18321412 | deletion | OSC1121 | SNP array | Probe signal intensity | 7 |
nssv18321698 | deletion | OSC1139 | SNP array | Probe signal intensity | 7 |
nssv18321760 | deletion | OSC1178 | SNP array | Probe signal intensity | 7 |
nssv18322021 | deletion | OSC1152 | SNP array | Probe signal intensity | nssv18321461, nssv18322020 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282541 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18287879 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18288552 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18289470 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18289503 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18291436 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18293012 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18294546 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18295035 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18300608 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18301509 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18321412 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18321698 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18321760 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18322021 | Remapped | Perfect | NC_000001.11:g.(?_ 196743464)_(196831 895_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,743,464 | 196,831,895 |
nssv18282541 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18287879 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18288552 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18289470 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18289503 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18291436 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18293012 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18294546 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18295035 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18300608 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18301509 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18321412 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18321698 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18321760 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 | ||
nssv18322021 | Submitted genomic | NC_000001.10:g.(?_ 196712594)_(196801 025_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,712,594 | 196,801,025 |