A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014490



Internal ID19103708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130088069hg38UCSC Ensembl
Innerchr3:129730687..129806912hg19UCSC Ensembl
Innerchr3:131213377..131289602hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3876226
hg1976226
hg1876226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4862n100
Supporting Variantsnssv3603557, nssv3736434
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)nsv1014490
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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