A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557172



Internal ID330279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126400790..126400841hg38UCSC Ensembl
chrX:125534773..125534824hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742277
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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