A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988257



Internal ID19223307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126535072..126535169hg38UCSC Ensembl
Outerchr3:126253915..126254012hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133325
Supporting Variants
SamplesKWS1
Known GenesCHST13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988257
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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