nsv3109651
- 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=TGGTCTTTTTTT;INTERNAL=NM_001201574,INTRONI
C;MEINFO=AluYb8,0,281,- - 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: 131 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 132 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3109651 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,748,568 | 31,748,568 |
nsv3109651 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 32,217,774 | 32,217,774 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14044667 | alu 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14044667 | Remapped | Perfect | NC_000014.9:g.3174 8568_31748569ins28 1 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,748,568 | 31,748,568 |
nssv14044667 | Submitted genomic | NC_000014.8:g.3221 7774_32217775ins28 1 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 32,217,774 | 32,217,774 |
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) |
---|---|
nssv14044667 | 0.004 |