A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702740



Internal ID126406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52061981..52062078hg38UCSC Ensembl
chr15:52354178..52354275hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533573
Supporting Variants
Samples
Known GenesMAPK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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