A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260829



Internal ID22119374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34542719..34561885hg38UCSC Ensembl
Outerchr17:32869738..32888904hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3819167
hg1919167
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228620
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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