A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235785



Internal ID22373392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20036237..20098901hg38UCSC Ensembl
Outerchr17:19939550..20002214hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260582, nssv14260584, nssv14260583
SamplesNA19238, HG00513, HG00514
Known GenesSPECC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235785
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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