A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002995



Internal ID17295947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895471..222897955hg38UCSC Ensembl
Outerchr2:223760189..223762673hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382485
hg192485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954168
Supporting Variants
SamplesBILGI_BIOE
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002995
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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