A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739277



Internal ID162943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12215339..12216655hg38UCSC Ensembl
chrX:12233458..12234774hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433427
Supporting Variants
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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