A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550893



Internal ID16338302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256409..52258268hg38UCSC Ensembl
Innerchr10:54016169..54018028hg19UCSC Ensembl
Innerchr10:53686175..53688034hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381860
hg191860
hg181860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1137n54
Supporting Variantsnssv748096, nssv748099, nssv748104, nssv748097, nssv748094, nssv748101, nssv748095, nssv748103, nssv748093, nssv748098, nssv748100, nssv748102
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550893
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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