A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3561045



Internal ID18512640
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 StatusS
Merged Variantsnsv1064087
Supporting Variants
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)nssv3561045
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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