A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420247



Internal ID199355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70903139..70904080hg38UCSC Ensembl
chrX:70122989..70123930hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740623
Samples
Known GenesTEX11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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