A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012843



Internal ID18755375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129957739..130166820hg38UCSC Ensembl
Innerchr3:129676582..129885663hg19UCSC Ensembl
Innerchr3:131159272..131368353hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38209082
hg19209082
hg18209082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603539
Samples
Known GenesALG1L2, FAM86HP, TRH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012843
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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