A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587968



Internal ID16375377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237631..46238705hg38UCSC Ensembl
Innerchr21:47657545..47658619hg19UCSC Ensembl
Innerchr21:46481973..46483047hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381075
hg191075
hg181075
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949329, nssv949331, nssv949328, nssv949330
Samples
Known GenesMCM3AP, MCM3AP-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587968
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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