A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619865



Internal ID15471760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46020972..46105752hg38UCSC Ensembl
Outerchr21:47440886..47525666hg19UCSC Ensembl
Outerchr21:46265314..46350094hg18UCSC Ensembl
Outerchr21:46265314..46350094hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383040
hg193040
hg183040
hg173040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509804
Supporting Variants
SamplesNA10860
Known GenesCOL6A2
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)nssv619865
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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