A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511247



Internal ID15503986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:106136982..106141967hg38UCSC Ensembl
Outerchr4:106101545..106144063hg38UCSC Ensembl
Innerchr4:107058139..107063124hg19UCSC Ensembl
Outerchr4:107022702..107065220hg19UCSC Ensembl
Innerchr4:107277588..107282573hg18UCSC Ensembl
Outerchr4:107242151..107284669hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3842519
hg1942519
hg1842519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624644
Samples1
Known GenesTBCK
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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