A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058974



Internal ID18801505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46172472..46286792hg38UCSC Ensembl
Innerchr17:44249838..44364158hg19UCSC Ensembl
Innerchr17:41605615..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114321
hg19114321
hg18114321
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n100
Supporting Variantsnssv3557322, nssv3557323, nssv3724216, nssv3557324, nssv3557325
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)nsv1058974
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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