A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003040



Internal ID18842066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33057097..33057262hg38UCSC Ensembl
Outerchr2:33282164..33282329hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151620
Supporting Variants
SamplesKWB1
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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