A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3546074



Internal ID18497669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085720..46199182hg38UCSC Ensembl
Innerchr17:44163086..44276548hg19UCSC Ensembl
Innerchr17:41518904..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38113463
hg19113463
hg18113422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056253
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3546074
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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