nsv3109573
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:TSD=CAGTTAATTCATTTT;INTERNAL=NM_153456,INTRONI
C;MEINFO=L1Ambig,-1,6019,- - Publication(s):Gardner et al. 2017
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: 228 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3109573 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 96,404,206 | 96,404,206 |
nsv3109573 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 97,056,460 | 97,056,460 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14072334 | line1 insertion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14072334 | Remapped | Perfect | NC_000013.11:g.964 04206_96404207ins? | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 96,404,206 | 96,404,206 |
nssv14072334 | Submitted genomic | NC_000013.10:g.970 56460_97056461ins? | GRCh37 (hg19) | NC_000013.10 | Chr13 | 97,056,460 | 97,056,460 |
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) |
---|---|
nssv14072334 | <0.001 |