A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17738813



Internal ID162479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1348093..1930225hg38UCSC Ensembl
chrX:1466986..2049118hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38582133
hg19582133
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556906
Supporting Variants
Samples
Known GenesAKAP17A, ASMT, ASMTL, ASMTL-AS1, IL3RA, P2RY8, SLC25A6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17738813
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000624


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