A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511552



Internal ID15850977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:71589334..71590235hg38UCSC Ensembl
Outerchr15:71586714..71590286hg38UCSC Ensembl
Innerchr15:71881673..71882574hg19UCSC Ensembl
Outerchr15:71879053..71882625hg19UCSC Ensembl
Innerchr15:69668727..69669628hg18UCSC Ensembl
Outerchr15:69666107..69669679hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg383573
hg193573
hg183573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626176
Samples1
Known GenesTHSD4
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511552
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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