nsv6627829
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:691,183
- 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: 2257 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2257 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6627829 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nsv6627829 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283394 | duplication | OSC2459 | SNP array | Probe signal intensity | 7 |
nssv18284662 | duplication | OSC2709 | SNP array | Probe signal intensity | 10 |
nssv18285272 | duplication | OSC2652 | SNP array | Probe signal intensity | 7 |
nssv18286742 | duplication | OSC3032 | SNP array | Probe signal intensity | 6 |
nssv18287145 | duplication | OSC3154 | SNP array | Probe signal intensity | 7 |
nssv18288977 | duplication | OSC3332 | SNP array | Probe signal intensity | 10 |
nssv18292595 | duplication | OSC3929 | SNP array | Probe signal intensity | 5 |
nssv18293532 | duplication | OSC4151 | SNP array | Probe signal intensity | nssv18293181, nssv18293182, nssv18293183 |
nssv18295933 | duplication | OSC4578 | SNP array | Probe signal intensity | 5 |
nssv18297185 | duplication | OSC4809 | SNP array | Probe signal intensity | 7 |
nssv18321903 | duplication | OSC1269 | SNP array | Probe signal intensity | 14 |
nssv18324446 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18283394 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18284662 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18285272 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18286742 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18287145 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18288977 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18292595 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18293532 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18295933 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18297185 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18321903 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18324446 | Remapped | Perfect | NC_000002.12:g.(?_ 32414970)_(3310615 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,414,970 | 33,106,152 |
nssv18283394 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18284662 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18285272 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18286742 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18287145 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18288977 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18292595 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18293532 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18295933 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18297185 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18321903 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 | ||
nssv18324446 | Submitted genomic | NC_000002.11:g.(?_ 32640038)_(3333121 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,640,038 | 33,331,219 |