A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737288



Internal ID160954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118815000..118858000hg38UCSC Ensembl
chrX:117948963..117991963hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3843001
hg1943001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420503
Supporting Variants
Samples
Known GenesZCCHC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737288
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000836995


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