A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549904



Internal ID18848185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46274563hg38UCSC Ensembl
Innerchr17:44208144..44351929hg19UCSC Ensembl
Innerchr17:41563921..41707706hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38143786
hg19143786
hg18143786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061701
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)nssv3549904
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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