A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260766



Internal ID22272999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30790354..30823143hg38UCSC Ensembl
Outerchr17:29117372..29150161hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3832790
hg1932790
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219178
Supporting Variants
SamplesNA19239
Known GenesCRLF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260766
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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