A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000973



Internal ID18743504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130196115hg38UCSC Ensembl
Innerchr3:129730687..129914958hg19UCSC Ensembl
Innerchr3:131213377..131397648hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38184272
hg19184272
hg18184272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4861n100
Supporting Variantsnssv3736443
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)nsv1000973
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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