A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623362



Internal ID15821935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220413133..220426699hg38UCSC Ensembl
Outerchr2:221277854..221291420hg19UCSC Ensembl
Outerchr2:220986098..220999664hg18UCSC Ensembl
Outerchr2:221103359..221116925hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
hg173079
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508888
Supporting Variants
SamplesNA18994
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)nssv623362
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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