A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000055



Internal ID20567095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2669743..2670086hg38UCSC Ensembl
chr12:2778909..2779252hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470394
Supporting Variants
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000055
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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