A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002690



Internal ID19186759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149021879..149022038hg38UCSC Ensembl
Outerchr5:148401442..148401601hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149180
Supporting Variants
SamplesKWB1
Known GenesSH3TC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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