A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340750



Internal ID20998303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54053305..54140290hg38UCSC Ensembl
chr2:54280442..54367427hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3886986
hg1986986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087506
Samples
Known GenesACYP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340750
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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