A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999349



Internal ID19158885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121535143..121641359hg38UCSC Ensembl
Innerchr3:121253990..121360206hg19UCSC Ensembl
Innerchr3:122736680..122842896hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38106217
hg19106217
hg18106217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604528
Samples
Known GenesARGFX, FBXO40, HCLS1, POLQ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999349
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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