nsv5036917
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,157
- 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: 106 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5036917 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 78,251,681 (-10, +21) | 78,258,837 (-21, +9) | ||
nsv5036917 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 77,547,505 (-10, +21) | 77,554,661 (-21, +9) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16469860 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16469860 | Submitted genomic | NC_000005.10:g.(78 251671_78251702)_( 78258816_78258846) del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 78,251,681 (-10, +21) | 78,258,837 (-21, +9) | ||
nssv16469860 | Remapped | Perfect | NC_000005.9:g.(775 47495_77547526)_(7 7554640_77554670)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 77,547,505 (-10, +21) | 77,554,661 (-21, +9) |
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) |
---|---|---|---|
nssv16469860 | <0.001 | 2 | 29246 |