A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999349



Internal ID16945615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143243031..143345330hg38UCSC Ensembl
Outerchr8:144325201..144427500hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38102300
hg19102300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950010
Supporting Variants
SamplesBILGI_BIOE
Known GenesGLI4, TOP1MT, ZFP41, ZNF696
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999349
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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