A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772465



Internal ID19308495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10311673..10312974hg38UCSC Ensembl
chr2:10451799..10453100hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077349
Supporting Variants
SamplesKWP1
Known GenesHPCAL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772465
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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