A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544767



Internal ID318879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109108012..109108012hg38UCSC Ensembl
chr1:109650634..109650634hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908839
Samples
Known GenesC1orf194
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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