A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057719



Internal ID18800250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38638035..38653509hg38UCSC Ensembl
Innerchr21:40009959..40025433hg19UCSC Ensembl
Innerchr21:38931829..38947303hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3815475
hg1915475
hg1815475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4429n100
Supporting Variantsnssv3600196
Samples
Known GenesERG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057719
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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