A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178325



Internal ID21317121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109199330..109199745hg38UCSC Ensembl
chr2:109815786..109816201hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941717
Supporting Variants
SamplesHG002
Known GenesSH3RF3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178325
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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