A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699293



Internal ID15089259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51308844..51311193hg38UCSC Ensembl
Innerchr10:53068604..53070953hg19UCSC Ensembl
Innerchr10:52738610..52740959hg18UCSC Ensembl
Innerchr10:52738610..52740959hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg382350
hg192350
hg182350
hg172350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523520
Supporting Variants
Samples
Known GenesPRKG1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699293
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