A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401366



Internal ID180743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57923143..57923193hg38UCSC Ensembl
chr1:58388815..58388865hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902850
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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