A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422147



Internal ID201199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182000..206000hg38UCSC Ensembl
chr2:114335556..114359534hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3824001
hg1923979
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905921
Samples
Known GenesDDX11L2, FAM138B, WASH2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422147
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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