A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748192



Internal ID20524217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134710535..134710600hg38UCSC Ensembl
chr9:137602381..137602446hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276089
Samples
Known GenesCOL5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748192
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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