A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187952



Internal ID21326595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142590757..142590757hg38UCSC Ensembl
chr2:143348326..143348326hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926546
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187952
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer