nsv3108771
- 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:
INTERNAL=NM_001190158,INTRONIC;MEINFO=L1Ta1d,2,6019,- - 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: 113 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3108771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,855,804 | 55,855,804 |
nsv3108771 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315945.1 | Chr16|NW_0 03315945.1 | 79,703 | 79,703 |
nsv3108771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,889,716 | 55,889,716 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14072243 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14072243 | Remapped | Perfect | NW_003315945.1:g.7 9703_79704ins6017 | GRCh38.p12 | Second Pass | NW_003315945.1 | Chr16|NW_0 03315945.1 | 79,703 | 79,703 |
nssv14072243 | Remapped | Perfect | NC_000016.10:g.558 55804_55855805ins6 017 | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,855,804 | 55,855,804 |
nssv14072243 | Submitted genomic | NC_000016.9:g.5588 9716_55889717ins60 17 | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,889,716 | 55,889,716 |
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) |
---|---|
nssv14072243 | <0.001 |