A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008653



Internal ID19097870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130047484..130117757hg38UCSC Ensembl
Innerchr3:129766327..129836600hg19UCSC Ensembl
Innerchr3:131249017..131319290hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3870274
hg1970274
hg1870274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4874n100
Supporting Variantsnssv3603017, nssv3603016
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)nsv1008653
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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