A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064087



Internal ID18806618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28462253..28755692hg38UCSC Ensembl
Innerchr17:26789271..27082710hg19UCSC Ensembl
Innerchr17:23813398..24106837hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38293440
hg19293440
hg18293440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561045
Samples
Known GenesALDOC, FOXN1, KIAA0100, NARR, NEK8, PIGS, PROCA1, RAB34, RPL23A, SDF2, SGK494, SLC13A2, SNORD42A, SNORD42B, SNORD4A, SNORD4B, SPAG5, SPAG5-AS1, SUPT6H, TLCD1, TRAF4, UNC119
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064087
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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