nsv7144597
- 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:56
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: 140 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7144597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 961,601 | 961,656 |
| nsv7144597 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 24,457 | 24,512 |
| nsv7144597 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 24,344 | 24,399 |
| nsv7144597 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 961,601 | 961,656 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18840564 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18840564 | Remapped | Perfect | NT_187681.1:g.2445 7_24512del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 24,457 | 24,512 |
| nssv18840564 | Remapped | Perfect | NT_187656.1:g.2434 4_24399del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 24,344 | 24,399 |
| nssv18840564 | Remapped | Perfect | NC_000011.10:g.961 601_961656del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 961,601 | 961,656 |
| nssv18840564 | Submitted genomic | NC_000011.9:g.9616 01_961656del | GRCh37.p13 | NC_000011.9 | Chr11 | 961,601 | 961,656 |
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) |
|---|---|---|---|
| nssv18840564 | 1 | 2 | 2 |