nsv5041038
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,363
- 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: 144 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5041038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 129,800,180 (-27, +41) | 129,806,542 (-31, +29) | ||
nsv5041038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 130,284,725 (-27, +41) | 130,291,087 (-31, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16540425 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16540425 | Submitted genomic | NC_000012.12:g.(12 9800153_129800221) _(129806511_129806 571)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 129,800,180 (-27, +41) | 129,806,542 (-31, +29) | ||
nssv16540425 | Remapped | Perfect | NC_000012.11:g.(13 0284698_130284766) _(130291056_130291 116)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 130,284,725 (-27, +41) | 130,291,087 (-31, +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) |
---|---|---|---|
nssv16540425 | <0.001 | 2 | 29246 |