A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740361



Internal ID164027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64358542..64604542hg38UCSC Ensembl
chrX:63578422..63824422hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg38246001
hg19246001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138814
Supporting Variants
Samples
Known GenesMTMR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740361
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000627484


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