A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957248



Internal ID22732376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35729957..35729957hg38UCSC Ensembl
chr9:35729954..35729954hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435438
Samples
Known GenesTLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957248
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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