A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632587



Internal ID21580892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123817784..123817784hg38UCSC Ensembl
chr7:123457838..123457838hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17153690
SamplesHG03371
Known GenesHYALP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632587
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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