A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998561



Internal ID20565601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2915657..2919005hg38UCSC Ensembl
chr12:3024823..3028171hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383349
hg193349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460555
Supporting Variants
Samples
Known GenesTULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998561
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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