A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597748



Internal ID21546366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63875330..63912692hg38UCSC Ensembl
chr17:61952690..61990052hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3837363
hg1937363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094633
SamplesHG03065
Known GenesCSH1, CSHL1, GH2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597748
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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