A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927353



Internal ID18948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178098645..178098721hg38UCSC Ensembl
chr2:178963372..178963448hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446957
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927353
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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