A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5635596



Internal ID21583901
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 StatusM
Merged Variants
Supporting Variantsnssv17139464
SamplesNA19239
Known GenesALDH7A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5635596
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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