A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3937983



Internal ID21358052
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 Variantsnssv15187156
SamplesHG002
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3937983
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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