A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142600



Internal ID341801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158146900..158152804hg38UCSC Ensembl
chr7:157939592..157945496hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385905
hg195905
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007875
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142600
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