A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062443



Internal ID18804974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147945..46190497hg38UCSC Ensembl
Innerchr17:44225311..44267863hg19UCSC Ensembl
Innerchr17:41581088..41623640hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842553
hg1942553
hg1842553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3225n100
Supporting Variantsnssv3556875
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)nsv1062443
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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