A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960825



Internal ID22735784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77725414..77725414hg38UCSC Ensembl
chr7:77354731..77354731hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439486
Samples
Known GenesRSBN1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960825
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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