A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486754



Internal ID18727709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246729524..246801473hg38UCSC Ensembl
Innerchr1:246892826..246964775hg19UCSC Ensembl
Innerchr1:244959449..245031398hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3871950
hg1971950
hg1871950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006262
Supporting Variants
Samples
Known GenesLOC149134, SCCPDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486754
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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