A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024647



Internal ID19113864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132224490..132296309hg38UCSC Ensembl
Innerchr8:133236737..133308556hg19UCSC Ensembl
Innerchr8:133305919..133377738hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3871820
hg1971820
hg1871820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691544
Samples
Known GenesKCNQ3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024647
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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