A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007522



Internal ID19096741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121481716..121655204hg38UCSC Ensembl
Innerchr3:121200563..121374051hg19UCSC Ensembl
Innerchr3:122683253..122856741hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38173489
hg19173489
hg18173489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604527
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)nsv1007522
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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