A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147350



Internal ID18855532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52302266..52302334hg38UCSC Ensembl
Outerchr10:54062026..54062094hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000124
SamplesKWB1
Known GenesPRKG1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147350
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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