A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346623



Internal ID21004176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233126374..233130358hg38UCSC Ensembl
chr2:233991084..233995068hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383985
hg193985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206243
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346623
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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