A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545440



Internal ID319485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75114046..75114054hg38UCSC Ensembl
chrX:74333881..74333889hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740785
Samples
Known GenesABCB7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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