A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511500



Internal ID15850925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30325401..30327581hg38UCSC Ensembl
Outerchr12:30323255..30331751hg38UCSC Ensembl
Innerchr12:30478334..30480514hg19UCSC Ensembl
Outerchr12:30476188..30484684hg19UCSC Ensembl
Innerchr12:30369601..30371781hg18UCSC Ensembl
Outerchr12:30367455..30375951hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388497
hg198497
hg188497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626118
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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