A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328254



Internal ID20861400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30750191..30751210hg38UCSC Ensembl
chr1:31223038..31224057hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060341
Samples
Known GenesLAPTM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328254
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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