A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001248



Internal ID19090465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76165156..76252603hg38UCSC Ensembl
Innerchr3:76214307..76301754hg19UCSC Ensembl
Innerchr3:76296997..76384444hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3887448
hg1987448
hg1887448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3596204
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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