A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057563



Internal ID19146782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13197951..13883095hg38UCSC Ensembl
Innerchr21:14570272..15255416hg19UCSC Ensembl
Innerchr21:13492143..14177287hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38685145
hg19685145
hg18685145
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4383n100
Supporting Variantsnssv3732570, nssv3732569, nssv3732571
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)nsv1057563
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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