nsv4775083
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:308
- 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: 117 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4775083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 52,047,872 (-67, +228) | 52,048,179 (-238, +246) |
nsv4775083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 52,441,656 (-67, +228) | 52,441,963 (-238, +246) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16297167 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16297167 | Remapped | Perfect | NC_000012.12:g.(52 047805_52048100)_( 52047941_52048425) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 52,047,872 (-67, +228) | 52,048,179 (-238, +246) |
nssv16297167 | Submitted genomic | NC_000012.11:g.(52 441589_52441884)_( 52441725_52442209) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 52,441,656 (-67, +228) | 52,441,963 (-238, +246) |
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) |
---|---|---|---|
nssv16297167 | 0.016 | 273 | 16834 |