nsv4972658
- 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:1,119
- 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: 92 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4972658 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 51,072,569 (-20, +20) | 51,073,687 (-36, +29) | ||
nsv4972658 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 51,466,352 (-20, +20) | 51,467,470 (-36, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16538741 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16538741 | Submitted genomic | NC_000012.12:g.(51 072549_51072589)_( 51073651_51073716) del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 51,072,569 (-20, +20) | 51,073,687 (-36, +29) | ||
nssv16538741 | Remapped | Perfect | NC_000012.11:g.(51 466332_51466372)_( 51467434_51467499) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 51,466,352 (-20, +20) | 51,467,470 (-36, +29) |
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) |
---|---|---|---|
nssv16538741 | <0.001 | 3 | 29246 |