A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322262



Internal ID20855374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216373233..216406221hg38UCSC Ensembl
chr1:216546575..216579563hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3832989
hg1932989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057508
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322262
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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