A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512526



Internal ID15851951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37725504..37727465hg38UCSC Ensembl
Outerchr18:35305467..35307428hg19UCSC Ensembl
Outerchr18:33559465..33561426hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381962
hg191962
hg181962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625129
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512526
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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