A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3957641



Internal ID18858290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:54992562..54992647hg38UCSC Ensembl
Outerchr5:54288390..54288475hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128164
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3957641
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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