A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137519



Internal ID18913005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:317685..318485hg38UCSC Ensembl
Outerchr5:317800..318600hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3011n106
Supporting Variantsnssv3990021
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137519
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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