A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114646



Internal ID19259752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6422843..6422908hg38UCSC Ensembl
Outerchr5:6422956..6423021hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974554
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114646
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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