A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058435



Internal ID18800966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53651171..53962842hg38UCSC Ensembl
Innerchr17:51728532..52040203hg19UCSC Ensembl
Innerchr17:49083531..49395202hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38311672
hg19311672
hg18311672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3265n100
Supporting Variantsnssv3566101
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)nsv1058435
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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