A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557966



Internal ID331044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899114..14899114hg38UCSC Ensembl
chrX:14917236..14917236hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739378
Samples
Known GenesMOSPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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