A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548497



Internal ID18846778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46286792hg38UCSC Ensembl
Innerchr17:44176972..44364158hg19UCSC Ensembl
Innerchr17:41532785..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38187187
hg19187187
hg18187151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066619
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3548497
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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