A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458479



Internal ID22516362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52024299..52104411hg38UCSC Ensembl
chrX:51767395..51847507hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3880113
hg1980113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883381
Supporting Variants
Samples
Known GenesMAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458479
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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