A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123914



Internal ID19257539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:13427571..13427628hg38UCSC Ensembl
Outerchr5:13427683..13427740hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974089
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123914
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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