A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768805



Internal ID19311899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50503168..50503769hg38UCSC Ensembl
chr3:50540599..50541200hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072258
Supporting Variants
SamplesKWP1
Known GenesCACNA2D2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768805
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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