A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430447



Internal ID209256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71740771..72518210hg38UCSC Ensembl
chrX:70960621..71738060hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38777440
hg19777440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740667
Samples
Known GenesCITED1, CXorf49, CXorf49B, ERCC6L, FLJ44635, HDAC8, NHSL2, PIN4, RGAG4, RPS26P11, RPS4X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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