A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522715



Internal ID8416990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33319157..34037875hg38UCSC Ensembl
Innerchr5:33319263..34037980hg19UCSC Ensembl
Innerchr5:33355020..34073737hg18UCSC Ensembl
Innerchr5:33355020..34073737hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38718719
hg19718718
hg18718718
hg17718718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698345
Samples
Known GenesADAMTS12, AMACR, C1QTNF3, C1QTNF3-AMACR, RXFP3, SLC45A2, TARS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522715
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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