A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740667



Internal ID164333
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 StatusS
Merged Variantsnsv5430447
Supporting Variants
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)nssv17740667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000833854


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