A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274965



Internal ID22277468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37858916..37894698hg38UCSC Ensembl
Outerchr6:37826692..37862474hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3835783
hg1935783
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199666
Supporting Variants
SamplesNA19239
Known GenesZFAND3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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