A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623841



Internal ID15475728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45879599..45963215hg38UCSC Ensembl
Outerchr21:47299513..47383129hg19UCSC Ensembl
Outerchr21:46123941..46207557hg18UCSC Ensembl
Outerchr21:46123941..46207557hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387807
hg197807
hg187807
hg177807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509804
Supporting Variants
SamplesNA18994
Known GenesPCBP3
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)nssv623841
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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