A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739283



Internal ID162949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12389207..12392384hg38UCSC Ensembl
chrX:12407326..12410503hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg383178
hg193178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417559
Supporting Variants
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739283
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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