A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948844



Internal ID22724306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132107604..132107604hg38UCSC Ensembl
chrX:131241632..131241632hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445186
Samples
Known GenesFRMD7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948844
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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