A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977434



Internal ID22752369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44392196..44392196hg38UCSC Ensembl
chr13:44966332..44966332hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375699
Samples
Known GenesSERP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977434
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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