A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013853



Internal ID19103072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044843..130109235hg38UCSC Ensembl
Innerchr3:129763686..129828078hg19UCSC Ensembl
Innerchr3:131246376..131310768hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3864393
hg1964393
hg1864393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4874n100
Supporting Variantsnssv3602801, nssv3602800
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)nsv1013853
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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