A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525477



Internal ID15106084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35530803..35792888hg38UCSC Ensembl
Innerchr5:35530905..35792990hg19UCSC Ensembl
Innerchr5:35566662..35828747hg18UCSC Ensembl
Innerchr5:35566662..35828747hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38262086
hg19262086
hg18262086
hg17262086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701605
Samples
Known GenesSPEF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525477
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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