A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065304



Internal ID18807835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089043..46164298hg38UCSC Ensembl
Innerchr17:44166409..44241664hg19UCSC Ensembl
Innerchr17:41522227..41597441hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3875256
hg1975256
hg1875215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3548441
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065304
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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