A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242036



Internal ID22375146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34119664..34124690hg38UCSC Ensembl
Outerchr17:32446683..32451709hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260617
SamplesNA19238
Known GenesASIC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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