A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392210



Internal ID21383240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173003166..173011650hg38UCSC Ensembl
chr5:172430169..172438653hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388485
hg198485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15703658
Samples
Known GenesATP6V0E1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4392210
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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