A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737566



Internal ID161232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130207326..130207398hg38UCSC Ensembl
chrX:129341300..129341372hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423951
Supporting Variants
Samples
Known GenesZNF280C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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