nsv6629402
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,506,271
- 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: 8410 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 8410 SVs from 116 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6629402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 187,530,553 | 189,036,823 |
nsv6629402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 188,451,707 | 189,957,977 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18289181 | duplication | OSC3445 | SNP array | Probe signal intensity | 5 |
nssv18291106 | duplication | OSC0386 | SNP array | Probe signal intensity | nssv18290512, nssv18290756 |
nssv18320925 | duplication | OSC1025 | SNP array | Probe signal intensity | nssv18320390, nssv18320926 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18289181 | Remapped | Perfect | NC_000004.12:g.(?_ 187530553)_(189036 823_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 187,530,553 | 189,036,823 |
nssv18291106 | Remapped | Perfect | NC_000004.12:g.(?_ 187530553)_(189036 823_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 187,530,553 | 189,036,823 |
nssv18320925 | Remapped | Perfect | NC_000004.12:g.(?_ 187530553)_(189036 823_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 187,530,553 | 189,036,823 |
nssv18289181 | Submitted genomic | NC_000004.11:g.(?_ 188451707)_(189957 977_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 188,451,707 | 189,957,977 | ||
nssv18291106 | Submitted genomic | NC_000004.11:g.(?_ 188451707)_(189957 977_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 188,451,707 | 189,957,977 | ||
nssv18320925 | Submitted genomic | NC_000004.11:g.(?_ 188451707)_(189957 977_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 188,451,707 | 189,957,977 |