A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414895



Internal ID194160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120455027..120455119hg38UCSC Ensembl
chrX:119588882..119588974hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737381
Samples
Known GenesLAMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414895
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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