A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670901



Internal ID21619206
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 Variantsnssv17166002
SamplesHG02818
Known GenesSH3KBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670901
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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