A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953512



Internal ID22728791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30862239..30862239hg38UCSC Ensembl
chr1:31335086..31335086hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363542
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953512
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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