A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605012



Internal ID21553317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135718999..135718999hg38UCSC Ensembl
chr2:136476569..136476569hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109011
SamplesHG01114
Known GenesR3HDM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605012
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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