A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055466



Internal ID19144685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13008386hg38UCSC Ensembl
Innerchr21:14364519..14380707hg19UCSC Ensembl
Innerchr21:13286390..13302578hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3816189
hg1916189
hg1816189
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585212, nssv3585213
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055466
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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