A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922587



Internal ID15824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178649618..178656000hg38UCSC Ensembl
chr2:179514345..179520727hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386383
hg196383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434953
Supporting Variants
Samples
Known GenesMIR548N, TTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922587
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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