A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv866412



Internal ID15813682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1614620..1685636hg38UCSC Ensembl
Innerchr17:1517914..1588930hg19UCSC Ensembl
Innerchr17:1464664..1535680hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3871017
hg1971017
hg1871017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574211
Supporting Variants
Samples
Known GenesPRPF8, RILP, SCARF1, SLC43A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv866412
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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