A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993752



Internal ID18897077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:602987..603144hg38UCSC Ensembl
Outerchr19:602987..603144hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142247
Supporting Variants
SamplesKWS2
Known GenesHCN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993752
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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