A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974974



Internal ID18883029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:169129466..169129533hg38UCSC Ensembl
Outerchr5:168556471..168556538hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137046
Supporting Variants
SamplesKWS2
Known GenesSLIT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974974
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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