A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467175



Internal ID21124728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83048144..83073418hg38UCSC Ensembl
chr11:82759186..82784460hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3825275
hg1925275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181705
Samples
Known GenesRAB30, RAB30-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467175
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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