A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620870



Internal ID15820221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167660666..167732731hg38UCSC Ensembl
Outerchr6:168061346..168133411hg19UCSC Ensembl
Outerchr6:167804195..167876260hg18UCSC Ensembl
Outerchr6:167879902..167951967hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384037
hg194037
hg184037
hg174037
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509171
Supporting Variants
SamplesNA15510
Known Genes
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)nssv620870
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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