A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136998



Internal ID19264342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57877435..57877498hg38UCSC Ensembl
Outerchr5:57173262..57173325hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974922
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136998
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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