A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736875



Internal ID160541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48769775..48772022hg38UCSC Ensembl
chrX:48628192..48630438hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382248
hg192247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418270
Supporting Variants
Samples
Known GenesGLOD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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