A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846103



Internal ID22029746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61763506..61763506hg38UCSC Ensembl
chr14:62230224..62230224hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258942
Supporting Variants
Samples
Known GenesSNAPC1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846103
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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