A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057193



Internal ID18799724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78921031..79481744hg38UCSC Ensembl
Innerchr17:76917113..77477826hg19UCSC Ensembl
Innerchr17:74428708..74989421hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38560714
hg19560714
hg18560714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567827
Samples
Known GenesC1QTNF1, C1QTNF1-AS1, CANT1, ENGASE, LGALS3BP, RBFOX3, TIMP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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