A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002685



Internal ID18745217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127819453..128455596hg38UCSC Ensembl
Innerchr3:127538296..128174439hg19UCSC Ensembl
Innerchr3:129020986..129657129hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38636144
hg19636144
hg18636144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603499
Samples
Known GenesEEFSEC, KBTBD12, MGLL, RUVBL1, SEC61A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002685
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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