A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994845



Internal ID19207296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159208992..159209592hg38UCSC Ensembl
Outerchr5:158636000..158636600hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144122
Supporting Variants
SamplesKWS1
Known GenesRNF145
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994845
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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