A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736697



Internal ID160363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45098518..45098518hg38UCSC Ensembl
chrX:44957763..44957763hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542041
Supporting Variants
Samples
Known GenesKDM6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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