A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770800



Internal ID19306814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48062360..48066561hg38UCSC Ensembl
chr2:48289499..48293700hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076475
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770800
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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