A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315654



Internal ID20848726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46207157..46230627hg38UCSC Ensembl
chr1:46672829..46696299hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3823471
hg1923471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201379
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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