A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830892



Internal ID22605827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110138744..110141771hg38UCSC Ensembl
chr2:110896321..110899348hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17484971, nssv17484970
Samples
Known GenesNPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830892
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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