A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418515



Internal ID197678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:864608..1428971hg38UCSC Ensembl
chrX:825343..1547864hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38564364
hg19722522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n206
Supporting Variantsnssv17738619
Samples
Known GenesASMTL, ASMTL-AS1, CRLF2, CSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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