A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998740



Internal ID19158276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121570652..121671424hg38UCSC Ensembl
Innerchr3:121289499..121390271hg19UCSC Ensembl
Innerchr3:122772189..122872961hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38100773
hg19100773
hg18100773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604529
Samples
Known GenesARGFX, FBXO40, GOLGB1, HCLS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998740
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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