A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3606849



Internal ID18905130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130067085..130141770hg38UCSC Ensembl
Innerchr3:129785928..129860613hg19UCSC Ensembl
Innerchr3:131268618..131343303hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3874686
hg1974686
hg1874686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003813
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)nssv3606849
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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