A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17165415



Internal ID21500101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118031420..118031420hg38UCSC Ensembl
chrX:117165383..117165383hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612417
Supporting Variants
SamplesNA19239
Known GenesKLHL13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17165415
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