A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894950



Internal ID22670027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132400680..132468999hg38UCSC Ensembl
chr5:131736372..131804691hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3868320
hg1968320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418498
Samples
Known GenesC5orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894950
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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