A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054811



Internal ID18797342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10197988..10287406hg38UCSC Ensembl
Innerchr12:10350587..10440005hg19UCSC Ensembl
Innerchr12:10241854..10331272hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3889419
hg1989419
hg1889419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521326
Samples
Known GenesGABARAPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054811
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer