A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755373



Internal ID20531233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5930757..5930757hg38UCSC Ensembl
chr7:5970388..5970388hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276545
Samples
Known GenesRSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755373
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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