A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704009



Internal ID18655604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143934622hg38UCSC Ensembl
Innerchr1:149036512..149429194hg19UCSC Ensembl
Innerchr1:147303136..147695818hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38392778
hg19392683
hg18392683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011891
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)nssv3704009
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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