A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432502



Internal ID211242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17336327..17377262hg38UCSC Ensembl
chr1:17662822..17703757hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3840936
hg1940936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899908
Samples
Known GenesPADI4, PADI6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432502
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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