A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6353479



Internal ID21011032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54165398..54262765hg38UCSC Ensembl
chr2:54392535..54489902hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3897368
hg1997368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087510
Samples
Known GenesACYP2, TSPYL6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6353479
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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