A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058396



Internal ID18800927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53651171..53967082hg38UCSC Ensembl
Innerchr17:51728532..52044443hg19UCSC Ensembl
Innerchr17:49083531..49399442hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38315912
hg19315912
hg18315912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3265n100
Supporting Variantsnssv3566103, nssv3566102
Samples
Known GenesKIF2B, MIR548AJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058396
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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