A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508834



Internal ID15824860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31818133..31862456hg38UCSC Ensembl
Outerchr2:32043202..32087525hg19UCSC Ensembl
Outerchr2:31896706..31941029hg18UCSC Ensembl
Outerchr2:31954853..31999176hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383298
hg193298
hg183298
hg173298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619899
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)nsv508834
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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