nsv4802472
- 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:187
- 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: 120 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4802472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 33,930,993 | 33,931,179 |
| nsv4802472 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 132,315 | 132,501 |
| nsv4802472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 33,931,098 | 33,931,284 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16324820 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16324820 | Remapped | Perfect | NT_187551.1:g.1323 15_132501del | GRCh38.p12 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 132,315 | 132,501 |
| nssv16324820 | Remapped | Perfect | NC_000005.10:g.339 30993_33931179del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 33,930,993 | 33,931,179 |
| nssv16324820 | Submitted genomic | NC_000005.9:g.3393 1098_33931284del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 33,931,098 | 33,931,284 |
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) |
|---|---|---|---|
| nssv16324820 | <0.001 | 1 | 16834 |