A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6137951



Internal ID337132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30793488..31239488hg38UCSC Ensembl
chrX:30811605..31257605hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38446001
hg19446001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739818
Samples
Known GenesDMD, FTHL17, TAB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6137951
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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