A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767082



Internal ID19315724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47836642..47839143hg38UCSC Ensembl
chr19:48339899..48342400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078445
Supporting Variants
SamplesKWP1
Known GenesCRX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767082
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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