A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559048



Internal ID332094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120609878..120609929hg38UCSC Ensembl
chrX:119743733..119743784hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737387
Samples
Known GenesMCTS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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