A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403412



Internal ID182772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108056184..108056235hg38UCSC Ensembl
chr7:107696629..107696680hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004085
Samples
Known GenesLAMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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