A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431771



Internal ID210539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:8465488..8724488hg38UCSC Ensembl
chrX:8433529..8692529hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38259001
hg19259001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563n206
Supporting Variantsnssv17739158
Samples
Known GenesKAL1, VCX3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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