A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310201



Internal ID22276133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184256901..184263500hg38UCSC Ensembl
chr3:183974689..183981288hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200200
Supporting Variants
SamplesNA19239
Known GenesCAMK2N2, ECE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310201
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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