A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319572



Internal ID20852667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28455818..28753520hg38UCSC Ensembl
chr1:28782329..29080032hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38297703
hg19297704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203538
Samples
Known GenesGMEB1, PHACTR4, RAB42, RCC1, RNU11, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA61, SNORD99, TAF12, TRNAU1AP, YTHDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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