A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974630



Internal ID19235482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132530645..132530695hg38UCSC Ensembl
Outerchr5:131866337..131866387hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114728
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974630
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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