A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372957



Internal ID22598626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42512885..42512986hg38UCSC Ensembl
chr1:42978556..42978657hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875462
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372957
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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