A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136656



Internal ID18908077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19959799..19959866hg38UCSC Ensembl
Outerchr22:19947322..19947389hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986132, nssv3973348
SamplesKWS1, KWS2
Known GenesCOMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136656
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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