A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17546925



Internal ID21871280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126584671..126584671hg38UCSC Ensembl
chr5:125920363..125920363hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6071168
Supporting Variants
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17546925
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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