A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005329



Internal ID20572369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8828467..8830842hg38UCSC Ensembl
chr12:8981063..8983438hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382376
hg192376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461919
Supporting Variants
Samples
Known GenesA2ML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005329
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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