A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997041



Internal ID16943307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136821949..136944648hg38UCSC Ensembl
Outerchr9:139716401..139839100hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38122700
hg19122700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951205
Supporting Variants
SamplesBILGI_BIOE
Known GenesC9orf172, EDF1, FBXW5, MAMDC4, MIR4292, MIR4479, PHPT1, RABL6, TRAF2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997041
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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