A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065152



Internal ID18807683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14801038..15324612hg38UCSC Ensembl
Innerchr20:14781684..15305258hg19UCSC Ensembl
Innerchr20:14729684..15253258hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38523575
hg19523575
hg18523575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4251n100
Supporting Variantsnssv3599570
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065152
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