A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4734997



Internal ID20510937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49498403..49498474hg38UCSC Ensembl
chr13:50072539..50072610hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288081
Samples
Known GenesPHF11
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4734997
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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