nsv4802326
- 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:60
- 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: 157 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4802326 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,109,894 | 29,109,953 |
| nsv4802326 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 82,276 | 82,335 |
| nsv4802326 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 29,110,001 | 29,110,060 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16325540 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16325540 | Remapped | Perfect | NW_003571036.1:g.8 2276_82335del | GRCh38.p12 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 82,276 | 82,335 |
| nssv16325540 | Remapped | Perfect | NC_000005.10:g.291 09894_29109953del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,109,894 | 29,109,953 |
| nssv16325540 | Submitted genomic | NC_000005.9:g.2911 0001_29110060del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 29,110,001 | 29,110,060 |
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) |
|---|---|---|---|
| nssv16325540 | <0.001 | 1 | 16834 |