A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003501



Internal ID19193494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45349449..45350374hg38UCSC Ensembl
Outerchr22:45745330..45746255hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38926
hg19926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150203
Supporting Variants
SamplesKWB1
Known GenesSMC1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003501
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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