A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187031



Internal ID21325864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2536162..2536162hg38UCSC Ensembl
chr2:2539934..2539934hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926874
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187031
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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