A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265416



Internal ID22281795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:215062004..215106208hg38UCSC Ensembl
Outerchr2:215926727..215970931hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3844205
hg1944205
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208337
Supporting Variants
SamplesNA19239
Known GenesABCA12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265416
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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