A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059146



Internal ID18801677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20849194..22546654hg38UCSC Ensembl
Innerchr17:20752507..22045981hg19UCSC Ensembl
Innerchr17:20693099..21970108hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381697461
hg191293475
hg181277010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560923
Samples
Known GenesC17orf103, C17orf51, CCDC144NL, DHRS7B, FAM27L, FLJ36000, KCNJ12, KCNJ18, LOC440416, MAP2K3, MTRNR2L1, TMEM11, USP22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059146
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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