A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397952



Internal ID177352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52930073..52930124hg38UCSC Ensembl
chr1:53395745..53395796hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903232
Samples
Known GenesSCP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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