nsv7138257
- 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:86
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: 370 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7138257 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,064,093 | 1,064,175 |
| nsv7138257 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 107,375 | 107,460 |
| nsv7138257 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 967,333 | 967,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18831693 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18831693 | Remapped | Good | NT_187613.1:g.1073 75_107460del | GRCh38.p12 | Second Pass | NT_187613.1 | Chr17|NT_1 87613.1 | 107,375 | 107,460 |
| nssv18831693 | Remapped | Perfect | NC_000017.11:g.106 4093_1064175del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,064,093 | 1,064,175 |
| nssv18831693 | Submitted genomic | NC_000017.10:g.967 333_967415del | GRCh37.p13 | NC_000017.10 | Chr17 | 967,333 | 967,415 |
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) |
|---|---|---|---|
| nssv18831693 | 1 | 2 | 2 |