A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509170



Internal ID15476668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167215994..167298815hg38UCSC Ensembl
Outerchr6:167629482..167712303hg19UCSC Ensembl
Outerchr6:167549472..167632293hg18UCSC Ensembl
Outerchr6:167599893..167682714hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383370
hg193370
hg183370
hg173370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623493
SamplesNA18994
Known GenesUNC93A
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)nsv509170
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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