A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558751



Internal ID16346160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44959584..44995034hg38UCSC Ensembl
Innerchr12:45353367..45388817hg19UCSC Ensembl
Innerchr12:43639634..43675084hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3835451
hg1935451
hg1835451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2601n54
Supporting Variantsnssv1175470
SamplesHGDP00828
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558751
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