A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142172



Internal ID19265173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64535552..64535882hg38UCSC Ensembl
Outerchr14:65002270..65002600hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988086, nssv3979304
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142172
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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