A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021384



Internal ID18763918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:590949..768705hg38UCSC Ensembl
Innerchr8:540949..718705hg19UCSC Ensembl
Innerchr8:530949..708705hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38177757
hg19177757
hg18177757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6795n100
Supporting Variantsnssv3674930
Samples
Known GenesERICH1, ERICH1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021384
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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