A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430291



Internal ID209105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102737330..102737428hg38UCSC Ensembl
chrX:101992258..101992356hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741760
Samples
Known GenesBHLHB9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430291
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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