A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752049



Internal ID20527909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19760004..19760069hg38UCSC Ensembl
chrX:19778122..19778187hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283307
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752049
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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