A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371797



Internal ID22597466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24558458..24762880hg38UCSC Ensembl
chr13:25132596..25337018hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38204423
hg19204423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937357
Supporting Variants
Samples
Known GenesATP12A, TPTE2P6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371797
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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