A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059942



Internal ID18802473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46120237..46199182hg38UCSC Ensembl
Innerchr17:44197603..44276548hg19UCSC Ensembl
Innerchr17:41553381..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3878946
hg1978946
hg1878945
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3203n100
Supporting Variantsnssv3720642, nssv3549811, nssv3549812, nssv3549810, nssv3549813, nssv3549814
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)nsv1059942
Frequency
Sample Size29084
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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