A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550884



Internal ID16338293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256302..52257891hg38UCSC Ensembl
Innerchr10:54016062..54017651hg19UCSC Ensembl
Innerchr10:53686068..53687657hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381590
hg191590
hg181590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1137n54
Supporting Variantsnssv747872, nssv747871, nssv747870, nssv747873, nssv747876, nssv747880, nssv747879, nssv747878, nssv747874, nssv747877, nssv747875
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550884
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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