A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511415



Internal ID15850840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128938773..128939571hg38UCSC Ensembl
Outerchr9:128937292..128940423hg38UCSC Ensembl
Innerchr9:131701052..131701850hg19UCSC Ensembl
Outerchr9:131699571..131702702hg19UCSC Ensembl
Innerchr9:130740873..130741671hg18UCSC Ensembl
Outerchr9:130739392..130742523hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383132
hg193132
hg183132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626024
Samples1
Known GenesPHYHD1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511415
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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