nsv3109127
- 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=AAACCAAAAAATC;INTERNAL=NM_001193465,INTRON
IC;MEINFO=SVA,3,1316,+ - 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: 456 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 450 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3109127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,076,611 | 46,076,611 |
| nsv3109127 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 778,710 | 778,710 |
| nsv3109127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,153,977 | 44,153,977 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14076557 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14076557 | Remapped | Perfect | NT_187663.1:g.7787 10_778711ins1313 | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 778,710 | 778,710 |
| nssv14076557 | Remapped | Perfect | NC_000017.11:g.460 76611_46076612ins1 313 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,076,611 | 46,076,611 |
| nssv14076557 | Submitted genomic | NC_000017.10:g.441 53977_44153978ins1 313 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,153,977 | 44,153,977 |
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) |
|---|---|
| nssv14076557 | 0.068 |