A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002386



Internal ID18845442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168775065..168777474hg38UCSC Ensembl
Outerchr5:168202070..168204479hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153731
Supporting Variants
SamplesKWB1
Known GenesSLIT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002386
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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