A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057250



Internal ID19146469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:60947206..61060475hg38UCSC Ensembl
Innerchr20:59522262..59635531hg19UCSC Ensembl
Innerchr20:58955657..59068926hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38113270
hg19113270
hg18113270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584325
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)nsv1057250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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