A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058013



Internal ID18800544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46175998hg38UCSC Ensembl
Innerchr17:44165803..44253364hg19UCSC Ensembl
Innerchr17:41521621..41609141hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3887562
hg1987562
hg1887521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3546208
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)nsv1058013
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