A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245704



Internal ID22050314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176009398..176009398hg38UCSC Ensembl
chr1:175978534..175978534hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839377
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245704
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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