A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949985



Internal ID22725425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115190618..115190618hg38UCSC Ensembl
chrX:114425181..114425181hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433617
Samples
Known GenesLRCH2, RBMXL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949985
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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