A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739385



Internal ID163051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15172883..15821370hg38UCSC Ensembl
chrX:15191005..15839493hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38648488
hg19648489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431806
Supporting Variants
Samples
Known GenesACE2, ASB11, ASB9, BMX, CA5B, CA5BP1, FIGF, INE2, PIGA, PIR, PIR-FIGF, TMEM27, ZRSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000832466


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