A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853148



Internal ID22036791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51330974..51330974hg38UCSC Ensembl
chr1:51796646..51796646hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253129
Supporting Variants
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853148
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