A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560232



Internal ID16347641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112574021..112578749hg38UCSC Ensembl
Innerchr12:113011825..113016553hg19UCSC Ensembl
Innerchr12:111496208..111500936hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384729
hg194729
hg184729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802580
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560232
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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