A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323959



Internal ID20857082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202450501..202453600hg38UCSC Ensembl
chr1:202419629..202422728hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201826
Samples
Known GenesPPP1R12B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323959
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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