A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961955



Internal ID22736894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135121828..135121828hg38UCSC Ensembl
chr5:134457518..134457518hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412228
Samples
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961955
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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