A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142123



Internal ID341323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142627399..142795705hg38UCSC Ensembl
chr7:142334913..142494030hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38168307
hg19159118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv491n206
Supporting Variantsnssv17006374
Samples
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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