A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064074



Internal ID18806605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46708304hg38UCSC Ensembl
Innerchr17:44347727..44785670hg19UCSC Ensembl
Innerchr17:41703504..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38437944
hg19437944
hg18437348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3233n100
Supporting Variantsnssv3565755, nssv3565753, nssv3725550, nssv3725549, nssv3565754, nssv3565756
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064074
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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