A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129554



Internal ID18937704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24212512..24212680hg38UCSC Ensembl
Outerchr14:24681718..24681886hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963806
SamplesKWS1
Known GenesCHMP4A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129554
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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