A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000124



Internal ID18843112
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 StatusS
Merged Variantsnsv1147350
Supporting Variants
SamplesKWB1
Known GenesPRKG1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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