A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423965



Internal ID202970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150494861..150495169hg38UCSC Ensembl
chrX:149663127..149663435hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737948
Samples
Known GenesMAMLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423965
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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