A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509795



Internal ID15477293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33457276..33521074hg38UCSC Ensembl
Outerchr21:34829583..34893381hg19UCSC Ensembl
Outerchr21:33751453..33815251hg18UCSC Ensembl
Outerchr21:33751453..33815251hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg387836
hg197836
hg187836
hg177836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618141, nssv621137, nssv623836, nssv619859
SamplesCHM, NA15510, NA18994, NA10860
Known GenesDNAJC28, GART, TMEM50B
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)nsv509795
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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