A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556890



Internal ID15997613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:553282..991389hg38UCSC Ensembl
Innerchr12:662448..1100555hg19UCSC Ensembl
Innerchr12:532709..970816hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38438108
hg19438108
hg18438108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2251n54
Supporting Variantsnssv785873
Samples
Known GenesB4GALNT3, ERC1, NINJ2, RAD52, WNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556890
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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