A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065292



Internal ID19154511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46199182hg38UCSC Ensembl
Innerchr17:44165803..44276548hg19UCSC Ensembl
Innerchr17:41521621..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38110746
hg19110746
hg18110705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546325, nssv3546331, nssv3720315, nssv3546326, nssv3546329, nssv3546339, nssv3546336, nssv3546327, nssv3546337, nssv3546332, nssv3546333, nssv3546340, nssv3546323, nssv3546341, nssv3546328, nssv3546322, nssv3546335, nssv3546330, nssv3546338, nssv3546324, nssv3546334
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)nsv1065292
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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