A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001182



Internal ID20568222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42888584..42889204hg38UCSC Ensembl
chr12:43282387..43283007hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460221
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001182
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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