A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425581



Internal ID204540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15647000..15703488hg38UCSC Ensembl
chrX:15665123..15721611hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3856489
hg1956489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739406
Samples
Known GenesCA5BP1, TMEM27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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