A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739712



Internal ID163378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23990546..23990626hg38UCSC Ensembl
chrX:24008663..24008743hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431130
Supporting Variants
Samples
Known GenesKLHL15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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