A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057241



Internal ID18799772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46169798hg38UCSC Ensembl
Innerchr17:44224533..44247164hg19UCSC Ensembl
Innerchr17:41580310..41602941hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822632
hg1922632
hg1822632
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3227n100
Supporting Variantsnssv3556819, nssv3556820, nssv3556818, nssv3556817, nssv3556814, nssv3724174, nssv3556816, nssv3556815
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)nsv1057241
Frequency
Sample Size29084
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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