A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997539



Internal ID18810389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121622949..122353111hg38UCSC Ensembl
Innerchr4:122544104..123274266hg19UCSC Ensembl
Innerchr4:122763554..123493716hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38730163
hg19730163
hg18730163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639397
Samples
Known GenesANXA5, BBS7, CCNA2, EXOSC9, KIAA1109, PP12613, TMEM155, TRPC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer