A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138676



Internal ID337860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143313000..143327000hg38UCSC Ensembl
chr2:91737740..91750634hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3814001
hg1912895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889492
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138676
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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