A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997480



Internal ID20564520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12739063..12740721hg38UCSC Ensembl
chr12:12891997..12893655hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473820
Supporting Variants
Samples
Known GenesAPOLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997480
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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