nsv2385494
- Organism: Homo sapiens
- Study:nstd128 (Mallick et al. 2016)
- Variant Type:short tandem repeat
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:79
- Description:MOTIF=[ATAC],NS=[301],REF=[19.75],RL=[79],RU=[
ATAC],RPA=[14.25,20.25],QUAL=[65499.2] - Publication(s):Mallick et al. 2016
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: 78 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv2385494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 164,995,405 | 164,995,483 |
nsv2385494 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 164,422,411 | 164,422,489 |
Variant Call Information
Variant Call ID | Type | Repeat Motif | Method | Analysis |
---|---|---|---|---|
nssv11933974 | short tandem repeat | (ATAC) 20.25 | Sequencing | Genotyping |
nssv11934715 | short tandem repeat | (ATAC) 19.75 (ref) | Sequencing | Genotyping |
nssv12024392 | short tandem repeat | (ATAC) 14.25 | Sequencing | Genotyping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nssv11933974 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 164,995,405 | 164,995,483 |
nssv11934715 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 164,995,405 | 164,995,483 |
nssv12024392 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 164,995,405 | 164,995,483 |
nssv11933974 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 164,422,411 | 164,422,489 | ||
nssv11934715 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 164,422,411 | 164,422,489 | ||
nssv12024392 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 164,422,411 | 164,422,489 |