A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971513



Internal ID15918783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111708608..111743723hg38UCSC Ensembl
Innerchr3:111427455..111462570hg19UCSC Ensembl
Innerchr3:112910145..112945260hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3835116
hg1935116
hg1835116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591290
Supporting Variants
Samples
Known GenesPHLDB2, PLCXD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971513
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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