nsv4815281
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,084
- Publication(s):Abel et al. 2020
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: 108 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4815281 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 162,483,704 | 162,490,787 |
| nsv4815281 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315919.1 | Chr5|NW_00 3315919.1 | 56,339 | 63,422 |
| nsv4815281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 161,910,710 | 161,917,793 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16328134 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16328134 | Remapped | Perfect | NW_003315919.1:g.5 6339_63422del | GRCh38.p12 | Second Pass | NW_003315919.1 | Chr5|NW_00 3315919.1 | 56,339 | 63,422 |
| nssv16328134 | Remapped | Perfect | NC_000005.10:g.162 483704_162490787de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 162,483,704 | 162,490,787 |
| nssv16328134 | Submitted genomic | NC_000005.9:g.1619 10710_161917793del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 161,910,710 | 161,917,793 |
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) |
|---|---|---|---|
| nssv16328134 | <0.001 | 3 | 16834 |