A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3602802



Internal ID18901083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044843..130117757hg38UCSC Ensembl
Innerchr3:129763686..129836600hg19UCSC Ensembl
Innerchr3:131246376..131319290hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3872915
hg1972915
hg1872915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013275
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)nssv3602802
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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