A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv991246



Internal ID15938516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8269725..8270256hg38UCSC Ensembl
Innerchr4:8271452..8271983hg19UCSC Ensembl
Innerchr4:8322352..8322883hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593635
Supporting Variants
Samples
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv991246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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