nsv7143903
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59
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: 306 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7143903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,029,780 | 1,029,838 |
| nsv7143903 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187664.1 | Chr17|NT_1 87664.1 | 69,027 | 69,085 |
| nsv7143903 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 69,027 | 69,085 |
| nsv7143903 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 933,020 | 933,078 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18837696 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18837696 | Remapped | Perfect | NT_187664.1:g.6902 7_69085del | GRCh38.p12 | Second Pass | NT_187664.1 | Chr17|NT_1 87664.1 | 69,027 | 69,085 |
| nssv18837696 | Remapped | Perfect | NT_187613.1:g.6902 7_69085del | GRCh38.p12 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 69,027 | 69,085 |
| nssv18837696 | Remapped | Perfect | NC_000017.11:g.102 9780_1029838del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,029,780 | 1,029,838 |
| nssv18837696 | Submitted genomic | NC_000017.10:g.933 020_933078del | GRCh37.p13 | NC_000017.10 | Chr17 | 933,020 | 933,078 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18837696 | 0.5 | 1 | 2 |