A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140530



Internal ID18922923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35196035..35196085hg38UCSC Ensembl
Outerchr5:35196137..35196187hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992025, nssv3957260
SamplesKWS2, KWS1
Known GenesPRLR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140530
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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