A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984896



Internal ID19214198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43494220..43500220hg38UCSC Ensembl
Outerchr22:43890100..43896100hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126632
Supporting Variants
SamplesKWS1
Known GenesMPPED1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984896
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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