A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130504



Internal ID18928240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:31849875..31849997hg38UCSC Ensembl
Outerchr5:31849981..31850103hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3068n106
Supporting Variantsnssv3966814
SamplesKWS2
Known GenesPDZD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130504
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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