A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125766



Internal ID15632266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143920044..143926863hg38UCSC Ensembl
Innerchr8:144994212..145001031hg19UCSC Ensembl
Innerchr8:145066200..145073019hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386820
hg196820
hg186820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612911
Supporting Variants
Samples
Known GenesPLEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125766
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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