A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436823



Internal ID22494693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132375240..132375591hg38UCSC Ensembl
chrX:131509268..131509619hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882744
Supporting Variants
Samples
Known GenesMBNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436823
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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