A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992030



Internal ID19245568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40430956..40431007hg38UCSC Ensembl
Outerchr5:40431058..40431109hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140534
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992030
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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