A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615552



Internal ID21563857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72681898..72681898hg38UCSC Ensembl
chrX:71901748..71901748hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17168268
SamplesHG00731
Known GenesPHKA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615552
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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