A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432490



Internal ID211230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50591006..50592873hg38UCSC Ensembl
chr1:51056678..51058545hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381868
hg191868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902926
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432490
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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