A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076541



Internal ID19315749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49901451..49903052hg38UCSC Ensembl
chr22:50295099..50296700hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771909
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076541
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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