A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17444547



Internal ID22502417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133635182..133635451hg38UCSC Ensembl
chrX:132769210..132769479hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886843
Supporting Variants
Samples
Known GenesGPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17444547
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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