A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997927



Internal ID18810777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161642444..161698644hg38UCSC Ensembl
Innerchr1:161612234..161668434hg19UCSC Ensembl
Innerchr1:159878858..159935058hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3856201
hg1956201
hg1856201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3498480
Samples
Known GenesFCGR2B, RPL31P11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997927
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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