A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000847



Internal ID16947113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50421672..50537371hg38UCSC Ensembl
Outerchr22:50860101..50975800hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38115700
hg19115700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955201
Supporting Variants
SamplesBILGI_BIOE
Known GenesADM2, LMF2, MIOX, NCAPH2, ODF3B, PPP6R2, SBF1, SCO2, TYMP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000847
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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