A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065100



Internal ID18807631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46364104hg38UCSC Ensembl
Innerchr17:44176972..44441470hg19UCSC Ensembl
Innerchr17:41532785..41797212hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38264499
hg19264499
hg18264428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3548519
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065100
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