A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415997



Internal ID195241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1392930..1481303hg38UCSC Ensembl
chrX:1511823..1600196hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3888374
hg1988374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738822
Samples
Known GenesASMTL, ASMTL-AS1, P2RY8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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