A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998681



Internal ID18847928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377291..49379720hg38UCSC Ensembl
Outerchr13:49951427..49953856hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149895
Supporting Variants
SamplesKWB1
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998681
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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