A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017256



Internal ID19106473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94542855..94557851hg38UCSC Ensembl
Innerchr8:95555083..95570079hg19UCSC Ensembl
Innerchr8:95624259..95639255hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3814997
hg1914997
hg1814997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7271n100
Supporting Variantsnssv3689727
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)nsv1017256
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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