A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062730



Internal ID18805261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13969206hg38UCSC Ensembl
Innerchr21:14594223..15341527hg19UCSC Ensembl
Innerchr21:13516094..14263398hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38747305
hg19747305
hg18747305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3732589
Samples
Known GenesANKRD20A11P, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062730
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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