A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750388



Internal ID21393108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197289277..197310276hg38UCSC Ensembl
chr2:198154001..198175000hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3821000
hg1921000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433676
Supporting Variants
SamplesSMI041
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750388
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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