A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142369



Internal ID18931256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114133615..114133671hg38UCSC Ensembl
Outerchr3:113852462..113852518hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979545, nssv3988255
SamplesKWS2, KWS1
Known GenesDRD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142369
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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