A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187876



Internal ID21326712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947174..104947174hg38UCSC Ensembl
chr2:105563632..105563632hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936653
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187876
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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