A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv748113



Internal ID15695383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256737..52261313hg38UCSC Ensembl
Innerchr10:54016497..54021073hg19UCSC Ensembl
Innerchr10:53686503..53691079hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg384577
hg194577
hg184577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550899
Supporting Variants
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv748113
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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