A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619460



Internal ID15818041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160597751..160654683hg38UCSC Ensembl
Outerchr6:161018783..161075715hg19UCSC Ensembl
Outerchr6:160938773..160995705hg18UCSC Ensembl
Outerchr6:160989194..161046126hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3882167
hg1982167
hg1882167
hg1782167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509160
Supporting Variants
SamplesNA10860
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)nssv619460
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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