A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687804



Internal ID111470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52454299..52636313hg38UCSC Ensembl
chr13:53028434..53210448hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38182015
hg19182015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511802
Supporting Variants
Samples
Known GenesCKAP2, HNRNPA1L2, TPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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