A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977000



Internal ID22751935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110201270..110201270hg38UCSC Ensembl
chr13:110853617..110853617hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354573
Samples
Known GenesCOL4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977000
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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