A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509182



Internal ID15476680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:881218..1018010hg38UCSC Ensembl
Outerchr7:920855..1057646hg19UCSC Ensembl
Outerchr7:887381..1024172hg18UCSC Ensembl
Outerchr7:694096..830887hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3826730
hg1926730
hg1826730
hg1726730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620876, nssv619472, nssv623501
SamplesNA18994, NA15510, NA10860
Known GenesADAP1, C7orf50, COX19, CYP2W1, GET4
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)nsv509182
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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