A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323730



Internal ID20856851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216145636..216152245hg38UCSC Ensembl
chr1:216318978..216325587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386610
hg196610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057273
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323730
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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