A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123613



Internal ID18935661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49908309..49908374hg38UCSC Ensembl
Outerchr22:50301957..50302022hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973382
SamplesKWS2
Known GenesALG12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123613
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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