A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619704



Internal ID21568009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150595744..150595744hg38UCSC Ensembl
chr1:150568220..150568220hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061138
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619704
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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