A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057930



Internal ID19147149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13715531hg38UCSC Ensembl
Innerchr21:14594223..15087852hg19UCSC Ensembl
Innerchr21:13516094..14009723hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38493630
hg19493630
hg18493630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3732574
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)nsv1057930
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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