A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357719



Internal ID22583388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70727970..70728244hg38UCSC Ensembl
chr12:71121750..71122024hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933722
Supporting Variants
Samples
Known GenesPTPRR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357719
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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