A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619924



Internal ID21568229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19730387..19730387hg38UCSC Ensembl
chrX:19748505..19748505hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg383274
hg193274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166183
SamplesHG02587
Known GenesSH3KBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619924
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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