A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961706



Internal ID22736648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77573104..77573104hg38UCSC Ensembl
chr7:77202421..77202421hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436543
Samples
Known GenesPTPN12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961706
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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