A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347333



Internal ID21004886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236043201..236047700hg38UCSC Ensembl
chr2:236951845..236956344hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087425
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347333
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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