A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114330



Internal ID19273893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45513586..45513650hg38UCSC Ensembl
Outerchr22:45909466..45909530hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973840
SamplesKWS2
Known GenesFBLN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114330
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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