A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261375



Internal ID22186335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29285082..29297253hg38UCSC Ensembl
Outerchr17:27612100..27624271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812172
hg1912172
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213684
Supporting Variants
SamplesHG00731
Known GenesNUFIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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