A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997757



Internal ID18810607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129996982..130089956hg38UCSC Ensembl
Innerchr3:129715825..129808799hg19UCSC Ensembl
Innerchr3:131198515..131291489hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3892975
hg1992975
hg1892975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4860n100
Supporting Variantsnssv3603545
Samples
Known GenesALG1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997757
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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