A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14347599



Internal ID22258675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965980..53966068hg38UCSC Ensembl
chr10:55725740..55725828hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528825
Supporting Variants
SamplesNA19238
Known GenesPCDH15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14347599
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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