A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415548



Internal ID194805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49001408..49001679hg38UCSC Ensembl
chrX:48857819..48858090hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736886
Samples
Known GenesGRIPAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415548
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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