A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138318



Internal ID337502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39504304..39504882hg38UCSC Ensembl
chr1:39969976..39970554hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901631
Samples
Known GenesBMP8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138318
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