A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380486



Internal ID22314326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48120225..48120527hg38UCSC Ensembl
chr17:46197587..46197889hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215560
Supporting Variants
SamplesNA19240
Known GenesSNX11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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