A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556884



Internal ID15997607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:512137..513156hg38UCSC Ensembl
Innerchr12:621303..622322hg19UCSC Ensembl
Innerchr12:491564..492583hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381020
hg191020
hg181020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n54
Supporting Variantsnssv785868
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556884
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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