nsv4957054
- 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:4,332,840
- 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: 3962 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 15170 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 12673 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4957054 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 58,101,598 (-1, +160) | 62,434,437 (-122, +2) | ||
| nsv4957054 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 61,646,111 (-1, +160) | 64,968,413 (-122, +2) |
| nsv4957054 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 33,056,641 (-1, +160) | 46,455,165 (-122, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16490274 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16490274 | Submitted genomic | NC_000007.14:g.(58 101597_58101758)_( 62434315_62434439) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 58,101,598 (-1, +160) | 62,434,437 (-122, +2) | ||
| nssv16490274 | Remapped | Pass | NC_000016.9:g.(330 56640_33056801)_(4 6455043_46455167)d elNC_000007.13:g.( 61646110_61646271) _(64968291_6496841 5)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 61,646,111 (-1, +160) | 64,968,413 (-122, +2) |
| nssv16490274 | Remapped | Pass | NC_000016.9:g.(330 56640_33056801)_(4 6455043_46455167)d elNC_000007.13:g.( 61646110_61646271) _(64968291_6496841 5)del | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 33,056,641 (-1, +160) | 46,455,165 (-122, +2) |
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) |
|---|---|---|---|
| nssv16490274 | <0.001 | 1 | 29246 |