A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243547



Internal ID22048157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50564295..50564295hg38UCSC Ensembl
chr1:51029967..51029967hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852384
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243547
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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