A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868875



Internal ID22643810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48893817..48893898hg38UCSC Ensembl
chrX:48751100..48751181hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457913
Samples
Known GenesTIMM17B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868875
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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