A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620887



Internal ID21569192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62730862..62730862hg38UCSC Ensembl
chr2:62957997..62957997hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113381
SamplesHG00731
Known GenesEHBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620887
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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