A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259443



Internal ID22272029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40279668..40282944hg38UCSC Ensembl
Outerchr15:40571869..40575145hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3850700
hg1950700
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234670
Supporting Variants
SamplesNA19239
Known GenesANKRD63
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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