A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111604



Internal ID18918790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772161..26773937hg38UCSC Ensembl
Outerchr22:27168124..27169900hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2451n106
Supporting Variantsnssv3964496
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111604
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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