A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999281



Internal ID17292233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48192341..48193540hg38UCSC Ensembl
Outerchr8:49104901..49106100hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951428
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999281
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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