A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178293



Internal ID21317089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53671695..53671882hg38UCSC Ensembl
chr2:53898832..53899019hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935410
Supporting Variants
SamplesHG002
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178293
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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