A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445580



Internal ID223926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197852608..197914975hg38UCSC Ensembl
chr1:197821738..197884105hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3862368
hg1962368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895149
Samples
Known GenesC1orf53, LHX9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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