A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112508



Internal ID21423986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241326400..241326548hg38UCSC Ensembl
chr2:242265815..242265963hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581542
Supporting Variants
SamplesHG00731
Known GenesSEPT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112508
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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