A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055542



Internal ID18798073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51378130..51402077hg38UCSC Ensembl
Innerchr20:49994667..50018614hg19UCSC Ensembl
Innerchr20:49428074..49452021hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3823948
hg1923948
hg1823948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731363
Samples
Known GenesNFATC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055542
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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