A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839004



Internal ID22022647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74530625..74530625hg38UCSC Ensembl
chr7:73944955..73944955hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245408
Supporting Variants
Samples
Known GenesGTF2IRD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839004
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