A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236405



Internal ID22373568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39867688..39882541hg38UCSC Ensembl
Outerchr17:38023941..38038794hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38103767
hg19103767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261292
SamplesHG00514
Known GenesZPBP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236405
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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