A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511330



Internal ID15850755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47597040..47598833hg38UCSC Ensembl
Outerchr6:47590249..47609233hg38UCSC Ensembl
Innerchr6:47564776..47566569hg19UCSC Ensembl
Outerchr6:47557985..47576969hg19UCSC Ensembl
Innerchr6:47672735..47674528hg18UCSC Ensembl
Outerchr6:47665944..47684928hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3818985
hg1918985
hg1818985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625566
Samples1
Known GenesCD2AP
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511330
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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