A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008750



Internal ID18751281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49171382..49324968hg38UCSC Ensembl
Innerchr3:49208815..49362401hg19UCSC Ensembl
Innerchr3:49183819..49337405hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38153587
hg19153587
hg18153587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595253
Samples
Known GenesC3orf62, C3orf84, CCDC36, KLHDC8B, MIR4271, USP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008750
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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