A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5635947



Internal ID21584252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122419767..122419767hg38UCSC Ensembl
chr7:122059821..122059821hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17148804
SamplesHG03125
Known GenesCADPS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5635947
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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