A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988150



Internal ID19212933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14833888..14833995hg38UCSC Ensembl
Outerchr19:14944700..14944807hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133255
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988150
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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