A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520749



Internal ID15448042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113230111..113238736hg38UCSC Ensembl
Innerchr1:113772733..113781358hg19UCSC Ensembl
Innerchr1:113574256..113582881hg18UCSC Ensembl
Innerchr1:113484775..113493400hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388626
hg198626
hg188626
hg178626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694399
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520749
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