A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139849



Internal ID19248366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158427192..158429192hg38UCSC Ensembl
Outerchr5:157854200..157856200hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978185
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139849
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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