A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558753



Internal ID16346162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44969762..45006831hg38UCSC Ensembl
Innerchr12:45363545..45400614hg19UCSC Ensembl
Innerchr12:43649812..43686881hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3837070
hg1937070
hg1837070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175472
SamplesNINDS_219
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558753
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