A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239719



Internal ID22044329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127997704..127997704hg38UCSC Ensembl
chr7:127637757..127637757hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839090
Samples
Known GenesSND1, SND1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239719
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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