A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17168804



Internal ID21447108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97185393..97185393hg38UCSC Ensembl
chrX:96440392..96440392hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619380
Supporting Variants
SamplesHG00732
Known GenesDIAPH2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17168804
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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