A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612816



Internal ID21561121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19761271..19761271hg38UCSC Ensembl
chrX:19779389..19779389hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166184
SamplesHG01505
Known GenesSH3KBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612816
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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