A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149534



Internal ID15529554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88427866..88573973hg38UCSC Ensembl
Innerchr14:88894210..89040317hg19UCSC Ensembl
Innerchr14:87963963..88110070hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38146108
hg19146108
hg18146108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565512
Supporting Variants
SamplesHGDP00807
Known GenesPTPN21, SPATA7, ZC3H14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149534
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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