A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789463



Internal ID15736733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19146456..19316144hg38UCSC Ensembl
Innerchr12:19299390..19469078hg19UCSC Ensembl
Innerchr12:19190657..19360345hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38169689
hg19169689
hg18169689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557675
Supporting Variants
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789463
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