A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317336



Internal ID20850420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:268580..763147hg38UCSC Ensembl
chr2:268580..763147hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38494568
hg19494568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3779n223
Supporting Variantsnssv18209135
Samples
Known GenesACP1, FAM150B, TMEM18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317336
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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