nsv7139079
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 564 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 421 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 614 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7139079 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 60,158 | 60,158 |
| nsv7139079 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 16,257 | 16,257 |
| nsv7139079 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 52,479 | 52,479 |
| nsv7139079 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000007.13 | Chr7 | 60,158 | 60,158 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18832871 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18832871 | Remapped | Perfect | NT_187558.1:g.1625 7_16258insGAGCAGAG AAACATAATCGGAACATC TCTGTGTATCAGGTTTTC GTACT | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 16,257 | 16,257 |
| nssv18832871 | Remapped | Perfect | NT_187653.1:g.5247 9_52480insGAGCAGAG AAACATAATCGGAACATC TCTGTGTATCAGGTTTTC GTACT | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 52,479 | 52,479 |
| nssv18832871 | Remapped | Perfect | NC_000007.14:g.601 58_60159insGAGCAGA GAAACATAATCGGAACAT CTCTGTGTATCAGGTTTT CGTACT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 60,158 | 60,158 |
| nssv18832871 | Submitted genomic | NC_000007.13:g.601 58_60159insGAGCAGA GAAACATAATCGGAACAT CTCTGTGTATCAGGTTTT CGTACT | GRCh37.p13 | NC_000007.13 | Chr7 | 60,158 | 60,158 |
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) |
|---|---|---|---|
| nssv18832871 | 0.5 | 1 | 2 |