A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950013



Internal ID16952200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143465031..143616230hg38UCSC Ensembl
Outerchr8:144547201..144698400hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38151200
hg19151200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999351
SamplesBILGI_BIOE
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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