A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999115



Internal ID19158651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130057003..130109235hg38UCSC Ensembl
Innerchr3:129775846..129828078hg19UCSC Ensembl
Innerchr3:131258536..131310768hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3852233
hg1952233
hg1852233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4883n100
Supporting Variantsnssv3604919
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)nsv999115
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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