A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881285



Internal ID22656260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19554006..19554072hg38UCSC Ensembl
chrX:19572124..19572190hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17453178
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881285
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer