A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199666



Internal ID22349219
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274962, nssv14274964, nssv14274965, nssv14274963
SamplesNA19238, NA19239, HG00513, HG00514
Known GenesZFAND3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199666
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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