A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557795



Internal ID16345204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24976081..25004195hg38UCSC Ensembl
Innerchr12:25129015..25157129hg19UCSC Ensembl
Innerchr12:25020282..25048396hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3828115
hg1928115
hg1828115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175451
Samples1780854339_A
Known GenesC12orf77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557795
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