A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548939



Internal ID322646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49229269..49229269hg38UCSC Ensembl
chrX:49085731..49085731hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736897
Samples
Known GenesCACNA1F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548939
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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