A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001310



Internal ID17294262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240552784..240560183hg38UCSC Ensembl
Outerchr2:241492201..241499600hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387400
hg197400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955290
Supporting Variants
SamplesBILGI_BIOE
Known GenesANKMY1, DUSP28
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001310
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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