A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003182



Internal ID20570222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70525055..70525881hg38UCSC Ensembl
chr12:70918835..70919661hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472376
Supporting Variants
Samples
Known GenesPTPRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003182
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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