A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556920



Internal ID330039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103525598..103527191hg38UCSC Ensembl
chr7:103166045..103167638hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000598
Samples
Known GenesRELN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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