A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3736443



Internal ID18688038
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 StatusS
Merged Variantsnsv1000973
Supporting Variants
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)nssv3736443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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