A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587971



Internal ID16375380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237733..46238490hg38UCSC Ensembl
Innerchr21:47657647..47658404hg19UCSC Ensembl
Innerchr21:46482075..46482832hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38758
hg19758
hg18758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7926n54
Supporting Variantsnssv949338
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)nsv587971
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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