A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059220



Internal ID19148439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21425355..21629477hg38UCSC Ensembl
Innerchr17:21328667..21532857hg19UCSC Ensembl
Innerchr17:21269260..21473450hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38204123
hg19204191
hg18204191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3124n100
Supporting Variantsnssv3560946, nssv3720024
Samples
Known GenesC17orf51
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059220
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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