A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv797554



Internal ID16091510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63939432..63972628hg38UCSC Ensembl
Innerchr12:64333212..64366408hg19UCSC Ensembl
Innerchr12:62619479..62652675hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3833197
hg1933197
hg1833197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559201
Supporting Variants
Samples
Known GenesSRGAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv797554
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