A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148336



Internal ID19203250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125293464..125293669hg38UCSC Ensembl
Outerchr8:126305706..126305911hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000374
SamplesKWB1
Known GenesNSMCE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148336
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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