A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512371



Internal ID15851796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96707122..96709686hg38UCSC Ensembl
Outerchr14:97173459..97176023hg19UCSC Ensembl
Outerchr14:96243212..96245776hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382565
hg192565
hg182565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624958
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)nsv512371
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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