A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973041



Internal ID18890750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19062515..19062573hg38UCSC Ensembl
Outerchr22:19050028..19050086hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136654
Supporting Variants
SamplesKWS2
Known GenesDGCR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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