A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918547



Internal ID22693768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142637383..142795706hg38UCSC Ensembl
chr7:142344886..142494030hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38158324
hg19149145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1926n209
Supporting Variantsnssv17443397
Samples
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918547
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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