A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624250



Internal ID21572555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46776319..46776319hg38UCSC Ensembl
chr1:47241991..47241991hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065381, nssv17065382
SamplesHG00731, HG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624250
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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