A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427549



Internal ID206451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19811185..19813085hg38UCSC Ensembl
chrX:19829303..19831203hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739543
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427549
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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