A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956306



Internal ID22731498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14858213..14858213hg38UCSC Ensembl
chr1:15184709..15184709hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351537
Samples
Known GenesKAZN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956306
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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