A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058731



Internal ID19147950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13231256..13883095hg38UCSC Ensembl
Innerchr21:14603577..15255416hg19UCSC Ensembl
Innerchr21:13525448..14177287hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38651840
hg19651840
hg18651840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3585316
Samples
Known GenesC21orf15, 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)nsv1058731
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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