A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000851



Internal ID16947117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50694973..50747372hg38UCSC Ensembl
Outerchr22:51133401..51185800hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3852400
hg1952400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955205
Supporting Variants
SamplesBILGI_BIOE
Known GenesACR, SHANK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000851
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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