A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434676



Internal ID22492546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130405824..130406153hg38UCSC Ensembl
chrX:129539798..129540127hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870525
Supporting Variants
Samples
Known GenesRBMX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434676
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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