A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919362



Internal ID13689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136899383..136899434hg38UCSC Ensembl
chr2:137656953..137657004hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558550
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001094


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