nsv7138944
- 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:54
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: 1051 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1051 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7138944 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,985,265 | 241,985,318 |
| nsv7138944 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 23,960 | 24,013 |
| nsv7138944 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 23,960 | 24,013 |
| nsv7138944 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 242,927,416 | 242,927,469 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18833805 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18833805 | Remapped | Perfect | NT_187523.1:g.2396 0_24013del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 23,960 | 24,013 |
| nssv18833805 | Remapped | Perfect | NT_187647.1:g.2396 0_24013del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 23,960 | 24,013 |
| nssv18833805 | Remapped | Perfect | NC_000002.12:g.241 985265_241985318de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,985,265 | 241,985,318 |
| nssv18833805 | Submitted genomic | NC_000002.11:g.242 927416_242927469de l | GRCh37.p13 | NC_000002.11 | Chr2 | 242,927,416 | 242,927,469 |
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) |
|---|---|---|---|
| nssv18833805 | 0.5 | 2 | 4 |