A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139464



Internal ID21501212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126584671..126584671hg38UCSC Ensembl
chr5:125920363..125920363hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635596
Supporting Variants
SamplesNA19239
Known GenesALDH7A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139464
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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