nsv4685553
- Organism: Homo sapiens
- Study:nstd194 (Lee et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Lee et al. 2020
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: 91 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 91 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4685553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 154,269,044 | 154,269,044 |
nsv4685553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,648,604 | 153,648,604 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16216491 | insertion | Sequencing | de novo and local sequence assembly |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16216491 | Remapped | Perfect | NC_000005.10:g.154 269044_154269045in s969 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 154,269,044 | 154,269,044 |
nssv16216491 | Submitted genomic | NC_000005.9:g.1536 48604_153648605ins 969 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,648,604 | 153,648,604 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) |
---|---|
nssv16216491 | 0.725 |