A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954182



Internal ID17303056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222932647..222932968hg38UCSC Ensembl
Outerchr2:223797365..223797686hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003766
SamplesBILGI_BIOE
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954182
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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