A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486792



Internal ID18727747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143587972..144572337hg38UCSC Ensembl
Innerchr1:149082625..149521828hg19UCSC Ensembl
Innerchr1:147349249..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38984366
hg19439204
hg18439204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006301
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486792
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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