A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187681



Internal ID21326521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231415088..231415088hg38UCSC Ensembl
chr2:232279799..232279799hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3938974
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187681
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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