A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577808



Internal ID16365217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78979558..78980811hg38UCSC Ensembl
Innerchr18:76739558..76740811hg19UCSC Ensembl
Innerchr18:74840546..74841799hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381254
hg191254
hg181254
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6102n54
Supporting Variantsnssv888861, nssv888862, nssv888859, nssv888858, nssv888860
Samples
Known GenesSALL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577808
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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