A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953185



Internal ID17302059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134601631..134610230hg38UCSC Ensembl
Outerchr2:135359201..135367800hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003033
SamplesBILGI_BIOE
Known GenesTMEM163
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953185
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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