A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442604



Internal ID221026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202768884..202814646hg38UCSC Ensembl
chr1:202738012..202783774hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3845763
hg1945763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895224
Samples
Known GenesKDM5B, PCAT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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