A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261235



Internal ID22222540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77610625..77648403hg38UCSC Ensembl
Outerchr17:75606707..75644485hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233909
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261235
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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