nsv5335625
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Abel 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: 499 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 501 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 5,134,723 | 5,134,723 | + |
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,686,596 | 54,686,596 | + |
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 669,006 | 669,006 | + |
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 412,950 | 412,950 | + |
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 591,209 | 591,209 | + |
| nsv5335625 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 592,755 | 592,755 | + |
| nsv5335625 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 5,134,723 | 5,134,723 | + | ||
| nsv5335625 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,197,892 | 55,197,892 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16414438 | interchromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 669,006 | 669,006 | + |
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 412,950 | 412,950 | + |
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 591,209 | 591,209 | + |
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,134,723 | 5,134,723 | + |
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 592,755 | 592,755 | + |
| nssv16414438 | Remapped | Perfect | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,686,596 | 54,686,596 | + |
| nssv16414438 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,134,723 | 5,134,723 | + | ||
| nssv16414438 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,197,892 | 55,197,892 | + |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16414438 | <0.001 | 1 | 16834 |