A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576107



Internal ID16363516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79338654..79397520hg38UCSC Ensembl
Innerchr17:77334736..77393602hg19UCSC Ensembl
Innerchr17:74846331..74905197hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3858867
hg1958867
hg1858867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876851, nssv876850, nssv876852, nssv876853
Samples
Known GenesRBFOX3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576107
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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