A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394385



Internal ID173817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36892933..36892933hg38UCSC Ensembl
chr7:36932538..36932538hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994461
Samples
Known GenesELMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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