A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062174



Internal ID18804705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46110933..46192180hg38UCSC Ensembl
Innerchr17:44188299..44269546hg19UCSC Ensembl
Innerchr17:41544082..41625323hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3881248
hg1981248
hg1881242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3201n100
Supporting Variantsnssv3548607, nssv3548606
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)nsv1062174
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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