A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333084



Internal ID20866259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84932801..84940900hg38UCSC Ensembl
chr1:85398484..85406583hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18064780
Samples
Known GenesMCOLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333084
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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