A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124865



Internal ID19263042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43736520..43738720hg38UCSC Ensembl
Outerchr22:44132400..44134600hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976919
SamplesKWS2
Known GenesEFCAB6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124865
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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