nsv7137835
- 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:81
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: 312 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137835 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 104,047 | 104,127 |
| nsv7137835 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 59,804 | 59,884 |
| nsv7137835 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 96,368 | 96,448 |
| nsv7137835 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000007.13 | Chr7 | 104,047 | 104,127 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18832337 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18832337 | Remapped | Perfect | NT_187558.1:g.5980 4_59884del | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 59,804 | 59,884 |
| nssv18832337 | Remapped | Perfect | NT_187653.1:g.9636 8_96448del | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 96,368 | 96,448 |
| nssv18832337 | Remapped | Perfect | NC_000007.14:g.104 047_104127del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 104,047 | 104,127 |
| nssv18832337 | Submitted genomic | NC_000007.13:g.104 047_104127del | GRCh37.p13 | NC_000007.13 | Chr7 | 104,047 | 104,127 |
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) |
|---|---|---|---|
| nssv18832337 | 0.5 | 2 | 4 |