A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145069



Internal ID19256624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133798309..133801109hg38UCSC Ensembl
Outerchr5:133134000..133136800hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981688
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145069
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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