A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061938



Internal ID18804469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46138956..46569765hg38UCSC Ensembl
Innerchr17:44216322..44647131hg19UCSC Ensembl
Innerchr17:41572099..42002447hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38430810
hg19430810
hg18430349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3556647
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061938
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