A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059565



Internal ID18802096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1642608..1691911hg38UCSC Ensembl
Innerchr17:1545902..1595205hg19UCSC Ensembl
Innerchr17:1492652..1541955hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3849304
hg1949304
hg1849304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560071
Samples
Known GenesPRPF8, RILP, SCARF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059565
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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