A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562471



Internal ID335425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143420670..143420721hg38UCSC Ensembl
chr7:143117763..143117814hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003850
Samples
Known GenesEPHA1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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