A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061933



Internal ID18804464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13913521hg38UCSC Ensembl
Innerchr21:14452850..15285842hg19UCSC Ensembl
Innerchr21:13374721..14207713hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38832993
hg19832993
hg18832993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4378n100
Supporting Variantsnssv3585266
Samples
Known GenesANKRD30BP2, 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)nsv1061933
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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