A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17508539



Internal ID22566489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93417969..93419618hg38UCSC Ensembl
chr6:94127687..94129336hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5846024
Supporting Variants
Samples
Known GenesEPHA7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17508539
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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