A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375371



Internal ID22311404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:25096623..25098002hg38UCSC Ensembl
chr15:25341770..25343149hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214024
Supporting Variants
SamplesNA19240
Known GenesSNORD116-25
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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