A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139106



Internal ID338290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71215092..71220214hg38UCSC Ensembl
chrX:70434942..70440064hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385123
hg195123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740642
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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