A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063984



Internal ID19153203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46084918..46218456hg38UCSC Ensembl
Innerchr17:44162284..44295822hg19UCSC Ensembl
Innerchr17:41518102..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133539
hg19133539
hg18133498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3180n100
Supporting Variantsnssv3545271, nssv3545270
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)nsv1063984
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer