A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559392



Internal ID16346801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74063102..74171515hg38UCSC Ensembl
Innerchr12:74456882..74565295hg19UCSC Ensembl
Innerchr12:72743149..72851562hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38108414
hg19108414
hg18108414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798832
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559392
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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