A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342371



Internal ID20999924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216658355..216777448hg38UCSC Ensembl
chr2:217523078..217642171hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38119094
hg19119094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205620
Samples
Known GenesIGFBP2, IGFBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342371
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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