A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348252



Internal ID21005805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126269224..126269734hg38UCSC Ensembl
chr2:127026801..127027311hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075979
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348252
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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