A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000780



Internal ID20567820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32738101..32739500hg38UCSC Ensembl
chr12:32891035..32892434hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474175
Supporting Variants
Samples
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000780
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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