A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511962



Internal ID15851387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55218460..55221393hg38UCSC Ensembl
Outerchr7:55286153..55289086hg19UCSC Ensembl
Outerchr7:55253647..55256580hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg382934
hg192934
hg182934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624504
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)nsv511962
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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