A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542321



Internal ID316751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160946163..160946184hg38UCSC Ensembl
chr1:160915953..160915974hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892342
Samples
Known GenesITLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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