A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317489



Internal ID20850575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150323902..150324670hg38UCSC Ensembl
chr1:150296355..150297124hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38769
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18052955
Samples
Known GenesPRPF3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317489
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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