A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067434



Internal ID18809965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46191927..46286792hg38UCSC Ensembl
Innerchr17:44269293..44364158hg19UCSC Ensembl
Innerchr17:41625070..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3894866
hg1994866
hg1894866
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n100
Supporting Variantsnssv3557413, nssv3725368, nssv3725365, nssv3725364, nssv3725369, nssv3725367, nssv3725363, nssv3725366, nssv3725361, nssv3725362
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)nsv1067434
Frequency
Sample Size29084
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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