A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746339



Internal ID21385258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241561380..241561704hg38UCSC Ensembl
chr2:242500795..242501119hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433728
Supporting Variants
SamplesBTQ055
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746339
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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