A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742195



Internal ID165861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124075000..124218100hg38UCSC Ensembl
chrX:123208850..123351950hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38143101
hg19143101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138727
Supporting Variants
Samples
Known GenesSTAG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626959


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