A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955171



Internal ID17304044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43735021..43740920hg38UCSC Ensembl
Outerchr22:44130901..44136800hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000817
SamplesBILGI_BIOE
Known GenesEFCAB6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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