A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261330



Internal ID22119574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78281252..78291535hg38UCSC Ensembl
Outerchr17:76277333..76287616hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810284
hg1910284
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212301
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261330
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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