A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955203



Internal ID16957390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50599072..50631372hg38UCSC Ensembl
Outerchr22:51037501..51069800hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3832301
hg1932300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000849
SamplesBILGI_BIOE
Known GenesARSA, MAPK8IP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955203
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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