A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv471294



Internal ID15387744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89198731..89431115hg38UCSC Ensembl
Innerchr3:89247881..89480265hg19UCSC Ensembl
Innerchr3:89330571..89562955hg18UCSC Ensembl
Innerchr3:89168782..89401166hg16UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38232385
hg19232385
hg18232385
hg16232385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437866
Supporting Variants
Samples
Known GenesEPHA3
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv471294
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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