A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192518



Internal ID21331401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41369871..41369871hg38UCSC Ensembl
chr1:41835543..41835543hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944197
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192518
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