A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3484737



Internal ID18725692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153335376..153553113hg38UCSC Ensembl
Innerchr1:153307852..153525589hg19UCSC Ensembl
Innerchr1:151574476..151792213hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38217738
hg19217738
hg18217738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002705
Supporting Variants
Samples
Known GenesPGLYRP4, S100A12, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A7L2, S100A8, S100A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3484737
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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