A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999589



Internal ID19159126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130035080..130158140hg38UCSC Ensembl
Innerchr3:129753923..129876983hg19UCSC Ensembl
Innerchr3:131236613..131359673hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38123061
hg19123061
hg18123061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4866n100
Supporting Variantsnssv3603635
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999589
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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