A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509220



Internal ID15825246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108176527..108208003hg38UCSC Ensembl
Outerchr7:107816972..107848447hg19UCSC Ensembl
Outerchr7:107604208..107635683hg18UCSC Ensembl
Outerchr7:107410923..107442398hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385750
hg195750
hg185750
hg175750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620890, nssv618067, nssv623517, nssv619499
SamplesCHM, NA15510, NA18994, NA10860
Known GenesNRCAM
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509220
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer