A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059072



Internal ID18801603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6727117..6876318hg38UCSC Ensembl
Innerchr17:6630436..6779637hg19UCSC Ensembl
Innerchr17:6571160..6720361hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38149202
hg19149202
hg18149202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560324
Samples
Known GenesALOX12P2, FBXO39, TEKT1, XAF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059072
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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