A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142374



Internal ID18902245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137757320..137778868hg38UCSC Ensembl
Outerchr3:137476162..137497710hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3821549
hg1921549
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993879
SamplesKWS2
Known GenesSOX14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142374
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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