A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134550



Internal ID19268337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:54626444..54626753hg38UCSC Ensembl
Outerchr16:54660356..54660665hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972433
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134550
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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