A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624727



Internal ID15501577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51443704..51454633hg38UCSC Ensembl
Outerchr10:53203464..53214393hg19UCSC Ensembl
Outerchr10:52873470..52884399hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3810930
hg1910930
hg1810930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512163
Supporting Variants
Samples1
Known GenesPRKG1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624727
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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