A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345352



Internal ID21002905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233104166..233116752hg38UCSC Ensembl
chr2:233968876..233981462hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3812587
hg1912587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206241
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345352
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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