A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955472



Internal ID17304345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17616715..17617057hg38UCSC Ensembl
Outerchr22:18099481..18099823hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003362
SamplesBILGI_BIOE
Known GenesATP6V1E1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955472
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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