A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949067



Internal ID22724525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100191784..100191784hg38UCSC Ensembl
chr1:100657340..100657340hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353035
Samples
Known GenesDBT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949067
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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