A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449432



Internal ID22507302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150759423..150762751hg38UCSC Ensembl
chrX:149927895..149931224hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383329
hg193330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881188
Supporting Variants
Samples
Known GenesMTMR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449432
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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