A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964646



Internal ID19227045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115476043..115476347hg38UCSC Ensembl
Outerchr8:116488270..116488574hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111741
Supporting Variants
SamplesKWS2
Known GenesTRPS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964646
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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