A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478631



Internal ID256182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36913578..36913712hg38UCSC Ensembl
chr7:36953183..36953317hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994464
Samples
Known GenesELMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478631
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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