A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3736441



Internal ID18688036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130177521hg38UCSC Ensembl
Innerchr3:129730687..129896364hg19UCSC Ensembl
Innerchr3:131213377..131379054hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38165678
hg19165678
hg18165678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000770
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)nssv3736441
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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