A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950002



Internal ID16952189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142055440..142642221hg38UCSC Ensembl
Outerchr8:143136801..143723600hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38586782
hg19586800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999341
SamplesBILGI_BIOE
Known GenesARC, BAI1, LINC00051, MIR4472-1, TSNARE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950002
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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