A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787259



Internal ID15734529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6945768..6956472hg38UCSC Ensembl
Innerchr12:7054931..7065635hg19UCSC Ensembl
Innerchr12:6925192..6935896hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810705
hg1910705
hg1810705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557263
Supporting Variants
Samples
Known GenesC12orf57, PTPN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787259
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