A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739156



Internal ID162822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8407488..8619488hg38UCSC Ensembl
chrX:8375529..8587529hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38212001
hg19212001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138866
Supporting Variants
Samples
Known GenesKAL1, VCX3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000209161


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