A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762726



Internal ID19310921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53494472..53495173hg38UCSC Ensembl
chr3:53528499..53529200hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1074593
Supporting Variants
SamplesKWP1
Known GenesCACNA1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762726
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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