A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261357



Internal ID22133258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78229165..78253865hg38UCSC Ensembl
Outerchr17:76225246..76249946hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3824701
hg1924701
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223059
Supporting Variants
SamplesHG00513
Known GenesTMEM235
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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