A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182109



Internal ID21320905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32717230..32717639hg38UCSC Ensembl
chr12:32870164..32870573hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951755
Supporting Variants
SamplesHG002
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182109
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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