A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975384



Internal ID19243797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28946467..28946524hg38UCSC Ensembl
Outerchr8:28803984..28804041hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115081
Supporting Variants
SamplesKWS2
Known GenesHMBOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975384
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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