nsv4755538
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Quan et al. 2021
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: 401 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 403 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4755538 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,750,339 | 195,750,339 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 120,836 | 120,836 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 44,397 | 44,397 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 44,397 | 44,397 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 44,397 | 44,397 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 45,698 | 45,698 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 120,836 | 120,836 |
nsv4755538 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 44,397 | 44,397 |
nsv4755538 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,477,210 | 195,477,210 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16284358 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16284358 | Remapped | Perfect | NT_187688.1:g.4439 7_44398ins149 | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 44,397 | 44,397 |
nssv16284358 | Remapped | Perfect | NT_187690.1:g.4439 7_44398ins149 | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 44,397 | 44,397 |
nssv16284358 | Remapped | Perfect | NT_187691.1:g.4439 7_44398ins149 | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 44,397 | 44,397 |
nssv16284358 | Remapped | Perfect | NT_187678.1:g.4569 8_45699ins149 | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 45,698 | 45,698 |
nssv16284358 | Remapped | Perfect | NT_187689.1:g.1208 36_120837ins149 | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 120,836 | 120,836 |
nssv16284358 | Remapped | Perfect | NT_187649.1:g.4439 7_44398ins149 | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 44,397 | 44,397 |
nssv16284358 | Remapped | Perfect | NT_187532.1:g.1208 36_120837ins149 | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 120,836 | 120,836 |
nssv16284358 | Remapped | Perfect | NC_000003.12:g.195 750339_195750340in s149 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,750,339 | 195,750,339 |
nssv16284358 | Submitted genomic | NC_000003.11:g.195 477210_195477211in s149 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,477,210 | 195,477,210 |