A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178437



Internal ID21317233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199624894..199625342hg38UCSC Ensembl
chr2:200489617..200490065hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933635
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178437
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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