A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623489



Internal ID15822062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160597751..160653024hg38UCSC Ensembl
Outerchr6:161018783..161074056hg19UCSC Ensembl
Outerchr6:160938773..160994046hg18UCSC Ensembl
Outerchr6:160989194..161044467hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3899727
hg1999727
hg1899727
hg1799727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509160
Supporting Variants
SamplesNA18994
Known GenesLPA
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)nssv623489
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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