nsv4995895
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,338
- 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: 100 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4995895 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 118,409,432 (-17, +17) | 118,410,769 (-26, +26) | ||
| nsv4995895 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 118,847,237 (-17, +17) | 118,848,574 (-26, +26) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16539931 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16539931 | Submitted genomic | NC_000012.12:g.(11 8409415_118409449) _(118410743_118410 795)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 118,409,432 (-17, +17) | 118,410,769 (-26, +26) | ||
| nssv16539931 | Remapped | Perfect | NC_000012.11:g.(11 8847220_118847254) _(118848548_118848 600)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 118,847,237 (-17, +17) | 118,848,574 (-26, +26) |
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) |
|---|---|---|---|
| nssv16539931 | <0.001 | 5 | 29246 |