A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066733



Internal ID18809264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46190497hg38UCSC Ensembl
Innerchr17:44176972..44267863hg19UCSC Ensembl
Innerchr17:41532785..41623640hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3890892
hg1990892
hg1890856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3548461
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)nsv1066733
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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