A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331252



Internal ID20864414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13340801..13408200hg38UCSC Ensembl
chr1:13667178..13734657hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3867400
hg1967480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051479
Samples
Known GenesPRAMEF17, PRAMEF18, PRAMEF19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331252
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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