A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573815



Internal ID21522223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368476..172368685hg38UCSC Ensembl
chr5:171795480..171795689hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121216
SamplesHG00512
Known GenesSH3PXD2B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573815
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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