A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052978



Internal ID21962212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74595750..74595750hg38UCSC Ensembl
chr1:75061434..75061434hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524975
Samples
Known GenesC1orf173
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052978
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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