A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5911164



Internal ID22686377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28544507..28595029hg38UCSC Ensembl
chr12:28697440..28747962hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3850523
hg1950523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361118
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5911164
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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