A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606500



Internal ID21554805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101226241..101226241hg38UCSC Ensembl
chr3:100945085..100945085hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17133396
SamplesHG02818
Known GenesIMPG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606500
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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