A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998981



Internal ID19158517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198065906..198169134hg38UCSC Ensembl
Innerchr3:197792777..197896005hg19UCSC Ensembl
Innerchr3:199277174..199380402hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38103229
hg19103229
hg18103229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5048n100
Supporting Variantsnssv3617043
Samples
Known GenesANKRD18DP, FAM157A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998981
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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