A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739249



Internal ID162915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11277019..11282074hg38UCSC Ensembl
chrX:11295139..11300194hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385056
hg195056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418866
Supporting Variants
Samples
Known GenesARHGAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00270664


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