A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548443



Internal ID18500038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089043..46199182hg38UCSC Ensembl
Innerchr17:44166409..44276548hg19UCSC Ensembl
Innerchr17:41522227..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38110140
hg19110140
hg18110099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055768
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)nssv3548443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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