A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459975



Internal ID21117528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82988363..82993037hg38UCSC Ensembl
chr11:82699405..82704079hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg384675
hg194675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17994035
Samples
Known GenesRAB30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459975
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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