A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056105



Internal ID19145324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13715620hg38UCSC Ensembl
Innerchr21:14594223..15087941hg19UCSC Ensembl
Innerchr21:13516094..14009812hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38493719
hg19493719
hg18493719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3732575
Samples
Known GenesLOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056105
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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