A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511490



Internal ID15504229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57634344..57635151hg38UCSC Ensembl
Outerchr12:57633003..57641923hg38UCSC Ensembl
Innerchr12:58028127..58028934hg19UCSC Ensembl
Outerchr12:58026786..58035706hg19UCSC Ensembl
Innerchr12:56314394..56315201hg18UCSC Ensembl
Outerchr12:56313053..56321973hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg388921
hg198921
hg188921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626107
Samples1
Known GenesB4GALNT1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511490
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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