A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431994



Internal ID210753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100052425..100055819hg38UCSC Ensembl
chr1:100517981..100521375hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908598
Samples
Known GenesHIAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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