A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17166183



Internal ID21457349
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 StatusS
Merged Variantsnsv5619924
Supporting Variants
SamplesHG02587
Known GenesSH3KBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17166183
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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