A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887329



Internal ID22662321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109546850..109658962hg38UCSC Ensembl
chrX:108790079..108902191hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38112113
hg19112113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439047
Samples
Known GenesACSL4, KCNE1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887329
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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