nsv6630455
- 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:48,390
- 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: 809 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 809 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630455 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 97,711,949 | 97,760,338 |
nsv6630455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 97,047,653 | 97,096,042 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283789 | deletion | OSC2273 | SNP array | Probe signal intensity | nssv18282870, nssv18283787, nssv18283788 |
nssv18286880 | deletion | OSC2988 | SNP array | Probe signal intensity | nssv18286676, nssv18286878, nssv18287568 |
nssv18308989 | deletion | OSC7078 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283789 | Remapped | Perfect | NC_000005.10:g.(?_ 97711949)_(9776033 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,711,949 | 97,760,338 |
nssv18286880 | Remapped | Perfect | NC_000005.10:g.(?_ 97711949)_(9776033 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,711,949 | 97,760,338 |
nssv18308989 | Remapped | Perfect | NC_000005.10:g.(?_ 97711949)_(9776033 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,711,949 | 97,760,338 |
nssv18283789 | Submitted genomic | NC_000005.9:g.(?_9 7047653)_(97096042 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,653 | 97,096,042 | ||
nssv18286880 | Submitted genomic | NC_000005.9:g.(?_9 7047653)_(97096042 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,653 | 97,096,042 | ||
nssv18308989 | Submitted genomic | NC_000005.9:g.(?_9 7047653)_(97096042 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,653 | 97,096,042 |