A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112886



Internal ID18934440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135398810..135399410hg38UCSC Ensembl
Outerchr5:134734500..134735100hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967386
SamplesKWS2
Known GenesH2AFY
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112886
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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