A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243980



Internal ID22048590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39012044..39012044hg38UCSC Ensembl
chr4:39013664..39013664hg19UCSC Ensembl
Cytoband4p14
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 Variantsnssv17856683
Samples
Known GenesTMEM156
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243980
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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