A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619858



Internal ID15471753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33298158..33324159hg38UCSC Ensembl
Outerchr21:34670463..34696464hg19UCSC Ensembl
Outerchr21:33592333..33618334hg18UCSC Ensembl
Outerchr21:33592333..33618334hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg385087
hg195087
hg185087
hg175087
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509794
Supporting Variants
SamplesNA10860
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)nssv619858
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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