A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265470



Internal ID22203277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23816677..23868177hg38UCSC Ensembl
Outerchr2:24039547..24091047hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3851501
hg1951501
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204427
Supporting Variants
SamplesHG00732
Known GenesATAD2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265470
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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