A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518729



Internal ID15446022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8700610..9134975hg38UCSC Ensembl
Innerchr7:8740240..9174605hg19UCSC Ensembl
Innerchr7:8706765..9141130hg18UCSC Ensembl
Innerchr7:8513480..8947845hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38434366
hg19434366
hg18434366
hg17434366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696179
Samples
Known GenesNXPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518729
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