A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996634



Internal ID19188373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47837442..47838943hg38UCSC Ensembl
Outerchr19:48340699..48342200hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147845
Supporting Variants
SamplesKWB1
Known GenesCRX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996634
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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