A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612417



Internal ID21560722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118031420..118031420hg38UCSC Ensembl
chrX:117165383..117165383hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17165415, nssv17165414
SamplesHG03125, NA19239
Known GenesKLHL13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612417
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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