A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803328



Internal ID15750598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119984021..119989373hg38UCSC Ensembl
Innerchr12:120421825..120427177hg19UCSC Ensembl
Innerchr12:118906208..118911560hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385353
hg195353
hg185353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560399
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)nssv803328
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