A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15749655



Internal ID21392595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196154277..196185276hg38UCSC Ensembl
chr2:197019001..197050000hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3831000
hg1931000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433675
Supporting Variants
SamplesSMI041
Known GenesSTK17B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15749655
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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