A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973347



Internal ID18898154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19112417..19113112hg38UCSC Ensembl
Outerchr22:19099930..19100625hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123575
Supporting Variants
SamplesKWS2
Known GenesDGCR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973347
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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