A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001314



Internal ID16947580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240710484..240925283hg38UCSC Ensembl
Outerchr2:241649901..241864700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38214800
hg19214800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955294
Supporting Variants
SamplesBILGI_BIOE
Known GenesAGXT, C2orf54, KIF1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001314
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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