A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059756



Internal ID18802287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34143188..34368334hg38UCSC Ensembl
Innerchr20:32730994..32956140hg19UCSC Ensembl
Innerchr20:32194655..32419801hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38225147
hg19225147
hg18225147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737195
Samples
Known GenesAHCY, ASIP, ITCH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059756
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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