A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058263



Internal ID18800794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76466514..76530556hg38UCSC Ensembl
Innerchr17:74462596..74526638hg19UCSC Ensembl
Innerchr17:71974191..72038233hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3864043
hg1964043
hg1864043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567807
Samples
Known GenesAANAT, CYGB, PRCD, RHBDF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058263
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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