A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430711



Internal ID209508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50648500..50655000hg38UCSC Ensembl
chrX:50391500..50398000hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736926
Samples
Known GenesSHROOM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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