nsv4435
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:54,978
- Publication(s):Kidd et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 306 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 2 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4435 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,151,806 | 97,206,783 |
nsv4435 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 98,072,957 | 98,127,934 |
nsv4435 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 98,430,135 | 98,485,112 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv7109 | Remapped | Perfect | NC_000004.12:g.(97 151806_?)_(?_97184 806)ins6429 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,151,806 | 97,184,806 |
nssv4768 | Remapped | Perfect | NC_000004.12:g.(97 177567_?)_(?_97206 783)ins5870 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,177,567 | 97,206,783 |
nssv7109 | Remapped | Perfect | NC_000004.11:g.(98 072957_?)_(?_98105 957)ins6429 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,072,957 | 98,105,957 |
nssv4768 | Remapped | Perfect | NC_000004.11:g.(98 098718_?)_(?_98127 934)ins5870 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,098,718 | 98,127,934 |
nssv7109 | Submitted genomic | NC_000004.9:g.(984 30135_?)_(?_984631 35)ins6429 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 98,430,135 | 98,463,135 | ||
nssv4768 | Submitted genomic | NC_000004.9:g.(984 55896_?)_(?_984851 12)ins5870 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 98,455,896 | 98,485,112 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv4768 | 3 | NA19129 | Multiple complete digestion | MCD analysis | Pass |