A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6002547



Internal ID21911890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73644054..73644221hg38UCSC Ensembl
chr5:72939879..72940046hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17553859
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6002547
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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