A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060571



Internal ID18803102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14943601..15158402hg38UCSC Ensembl
Innerchr20:14924247..15139048hg19UCSC Ensembl
Innerchr20:14872247..15087048hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38214802
hg19214802
hg18214802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4274n100
Supporting Variantsnssv3599614
Samples
Known GenesMACROD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060571
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