A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786935



Internal ID16080891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5305414..5368982hg38UCSC Ensembl
Innerchr12:5414580..5478148hg19UCSC Ensembl
Innerchr12:5284841..5348409hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3863569
hg1963569
hg1863569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557154
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv786935
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