A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201563



Internal ID21340364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135273387..135273387hg38UCSC Ensembl
chr5:134609077..134609077hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946311
Supporting Variants
SamplesHG002
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201563
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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