nsv3109507
- 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_014216,INTRONIC;MEINFO=SVA,514,1316,- - 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: 107 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109507 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | 92,969,722 | 92,969,722 |
| nsv3109507 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187601.1 | Chr14|NT_1 87601.1 | 84,284 | 84,284 |
| nsv3109507 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 93,436,067 | 93,436,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14075459 | sva 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14075459 | Remapped | Perfect | NT_187601.1:g.8428 4_84285ins802 | GRCh38.p12 | First Pass | NT_187601.1 | Chr14|NT_1 87601.1 | 84,284 | 84,284 |
| nssv14075459 | Remapped | Perfect | NC_000014.9:g.9296 9722_92969723ins80 2 | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 92,969,722 | 92,969,722 |
| nssv14075459 | Submitted genomic | NC_000014.8:g.9343 6067_93436068ins80 2 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 93,436,067 | 93,436,067 |
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) |
|---|---|
| nssv14075459 | 0.002 |