A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331818



Internal ID20864985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45509201..45511400hg38UCSC Ensembl
chr1:45974873..45977072hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061092
Samples
Known GenesMMACHC, PRDX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331818
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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