A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458846



Internal ID22516728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64867433..64884895hg38UCSC Ensembl
chr11:64634905..64652367hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3817463
hg1917463
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853640
Supporting Variants
Samples
Known GenesEHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458846
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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