A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736582



Internal ID160248
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 StatusS
Merged Variantsnsv5413929
Supporting Variants
Samples
Known GenesCASK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736582
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000209468


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