A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339087



Internal ID20996640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157287417..157288246hg38UCSC Ensembl
chr2:158143929..158144758hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079786
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339087
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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