A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556887



Internal ID15997610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:523074..758338hg38UCSC Ensembl
Innerchr12:632240..867504hg19UCSC Ensembl
Innerchr12:502501..737765hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38235265
hg19235265
hg18235265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv785870
Samples
Known GenesB4GALNT3, NINJ2, WNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556887
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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