A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927349



Internal ID18946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177995380..177996407hg38UCSC Ensembl
chr2:178860107..178861134hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436534
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927349
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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