A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889290



Internal ID166954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10000..52000hg38UCSC Ensembl
chr1:10001..52000hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3842001
hg1942000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138160
Supporting Variants
Samples
Known GenesDDX11L1, FAM138A, FAM138F, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.139791


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