A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511881



Internal ID15851306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47596610..47599181hg38UCSC Ensembl
Outerchr6:47564346..47566917hg19UCSC Ensembl
Outerchr6:47672305..47674876hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382572
hg192572
hg182572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624414
Samples1
Known GenesCD2AP
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511881
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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