A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001215



Internal ID16947481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144556774..144557431hg38UCSC Ensembl
Outerchr8:145782158..145782815hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958500
Supporting Variants
SamplesBILGI_BIOE
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001215
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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