A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509792



Internal ID15825818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29115253..29122918hg38UCSC Ensembl
Outerchr21:30487574..30495239hg19UCSC Ensembl
Outerchr21:29409445..29417110hg18UCSC Ensembl
Outerchr21:29409445..29417110hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg383413
hg193413
hg183413
hg173413
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623834, nssv618140, nssv621135, nssv619856
SamplesCHM, NA15510, NA18994, NA10860
Known GenesMAP3K7CL
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)nsv509792
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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