A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413929



Internal ID193218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41643000..41650000hg38UCSC Ensembl
chrX:41502253..41509253hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736582
Samples
Known GenesCASK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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