A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444512



Internal ID222882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181846676..181984401hg38UCSC Ensembl
chr2:182711403..182849128hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38137726
hg19137726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927452
Samples
Known GenesPPP1R1C, SSFA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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