A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550865



Internal ID15991588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51447846..51451689hg38UCSC Ensembl
Innerchr10:53207606..53211449hg19UCSC Ensembl
Innerchr10:52877612..52881455hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383844
hg193844
hg183844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1132n54
Supporting Variantsnssv747845, nssv747846
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550865
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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