A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002971



Internal ID20570011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65169401..65170300hg38UCSC Ensembl
chr12:65563181..65564080hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464649
Supporting Variants
Samples
Known GenesLEMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002971
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00078


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