A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557346



Internal ID15998069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8697651..8698822hg38UCSC Ensembl
Innerchr12:8850247..8851418hg19UCSC Ensembl
Innerchr12:8741514..8742685hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2342n54
Supporting Variantsnssv787440, nssv787439
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557346
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer