A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957455



Internal ID22732573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127892113..127892113hg38UCSC Ensembl
chr2:128649687..128649687hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405318
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957455
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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