A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv747869



Internal ID15695139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256302..52257509hg38UCSC Ensembl
Innerchr10:54016062..54017269hg19UCSC Ensembl
Innerchr10:53686068..53687275hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550883
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)nssv747869
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