A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964748



Internal ID22739683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118142056..118142056hg38UCSC Ensembl
chr1:118684679..118684679hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364114
Samples
Known GenesSPAG17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964748
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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