A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764837



Internal ID18959676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46603816..46606817hg38UCSC Ensembl
chr12:46997599..47000600hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075440
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764837
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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