A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689729



Internal ID18988010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94543826..94566121hg38UCSC Ensembl
Innerchr8:95556054..95578349hg19UCSC Ensembl
Innerchr8:95625230..95647525hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3822296
hg1922296
hg1822296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032065
Supporting Variants
Samples
Known GenesKIAA1429
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689729
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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