A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6003705



Internal ID21913048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126550452..126550662hg38UCSC Ensembl
chr5:125886144..125886354hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17541274
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6003705
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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