A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869302



Internal ID22644237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124396450..124397832hg38UCSC Ensembl
chrX:123530300..123531682hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438758
Samples
Known GenesTENM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869302
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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