A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750912



Internal ID21386472
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 StatusS
Merged Variantsnsv4435311
Supporting Variants
SamplesMDQ010
Known GenesEIF2AK1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750912
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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