nsv6625471
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:69,025
- 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: 1354 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1354 SVs from 86 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625471 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nsv6625471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18304775 | duplication | OSC6121 | SNP array | Probe signal intensity | 9 |
nssv18307953 | duplication | OSC6847 | SNP array | Probe signal intensity | 17 |
nssv18309768 | duplication | OSC7021 | SNP array | Probe signal intensity | 8 |
nssv18312590 | duplication | OSC7728 | SNP array | Probe signal intensity | 11 |
nssv18313944 | duplication | OSC8004 | SNP array | Probe signal intensity | 6 |
nssv18319010 | duplication | OSC8672 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18304775 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18307953 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18309768 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18312590 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18313944 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18319010 | Remapped | Perfect | NC_000001.11:g.(?_ 103542120)_(103611 144_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,542,120 | 103,611,144 |
nssv18304775 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 | ||
nssv18307953 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 | ||
nssv18309768 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 | ||
nssv18312590 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 | ||
nssv18313944 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 | ||
nssv18319010 | Submitted genomic | NC_000001.10:g.(?_ 104084742)_(104153 766_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,084,742 | 104,153,766 |