A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964496



Internal ID18893767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772161..26773937hg38UCSC Ensembl
Outerchr22:27168124..27169900hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111604
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964496
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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