A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182637



Internal ID21321433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125114662..125114737hg38UCSC Ensembl
chr12:125599208..125599283hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933254
Supporting Variants
SamplesHG002
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182637
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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