A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499393



Internal ID18740348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155107614..155164069hg38UCSC Ensembl
Innerchr1:155080090..155136545hg19UCSC Ensembl
Innerchr1:153346714..153403169hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3856456
hg1956456
hg1856456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998756
Supporting Variants
Samples
Known GenesDPM3, EFNA1, SLC50A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499393
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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