A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435311



Internal ID21397313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6055364..6057126hg38UCSC Ensembl
chr7:6094995..6096757hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15750912
SamplesMDQ010
Known GenesEIF2AK1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435311
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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