A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577820



Internal ID16018543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78980085..78980976hg38UCSC Ensembl
Innerchr18:76740085..76740976hg19UCSC Ensembl
Innerchr18:74841073..74841964hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38892
hg19892
hg18892
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6104n54
Supporting Variantsnssv888905, nssv888904, nssv888906
Samples
Known GenesSALL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577820
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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