A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966158



Internal ID22741093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14256979..14327817hg38UCSC Ensembl
chr21:15629300..15700138hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3870839
hg1970839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403804
Samples
Known GenesABCC13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966158
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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