A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430274



Internal ID209088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110213661..110213754hg38UCSC Ensembl
chrX:109456889..109456982hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741951
Samples
Known GenesAMMECR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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