A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6002019



Internal ID21911362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49526091..49526145hg38UCSC Ensembl
chr10:50734137..50734191hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17588992
Samples
Known GenesERCC6, ERCC6-PGBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6002019
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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