A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250987



Internal ID22055597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29957305..29957305hg38UCSC Ensembl
chr19:30448212..30448212hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848235
Samples
Known GenesURI1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250987
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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