A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064091



Internal ID19153310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46284631hg38UCSC Ensembl
Innerchr17:44208144..44361997hg19UCSC Ensembl
Innerchr17:41563921..41717774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38153854
hg19153854
hg18153854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204n100
Supporting Variantsnssv3549906, nssv3549907
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064091
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