A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067546



Internal ID19156765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13703148hg38UCSC Ensembl
Innerchr21:14594223..15075469hg19UCSC Ensembl
Innerchr21:13516094..13997340hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38481247
hg19481247
hg18481247
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4383n100
Supporting Variantsnssv3732573, nssv3585285, nssv3585286, nssv3585287
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)nsv1067546
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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