A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013509



Internal ID19102727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044004..130125697hg38UCSC Ensembl
Innerchr3:129762847..129844540hg19UCSC Ensembl
Innerchr3:131245537..131327230hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3881694
hg1981694
hg1881694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4874n100
Supporting Variantsnssv3603877, nssv3603876, nssv3603875
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)nsv1013509
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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