A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949985



Internal ID17298859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:132076254..132085653hg38UCSC Ensembl
Outerchr8:133088501..133097900hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999326
SamplesBILGI_BIOE
Known GenesHHLA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949985
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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