A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012382



Internal ID18754915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130174126hg38UCSC Ensembl
Innerchr3:129730687..129892969hg19UCSC Ensembl
Innerchr3:131213377..131375659hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38162283
hg19162283
hg18162283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n100
Supporting Variantsnssv3736435
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)nsv1012382
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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