A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627321



Internal ID21575626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30968640..30968640hg38UCSC Ensembl
chr7:31008255..31008255hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150498
SamplesHG02818
Known GenesGHRHR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627321
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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