A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067318



Internal ID18809849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089043..46202033hg38UCSC Ensembl
Innerchr17:44166409..44279399hg19UCSC Ensembl
Innerchr17:41522227..41635176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38112991
hg19112991
hg18112950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3548444
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)nsv1067318
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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