A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055798



Internal ID18798329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5488954..5716336hg38UCSC Ensembl
Innerchr20:5469600..5696982hg19UCSC Ensembl
Innerchr20:5417600..5644982hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38227383
hg19227383
hg18227383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4241n100
Supporting Variantsnssv3599358
Samples
Known GenesGPCPD1, LINC00654
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055798
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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