A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330133



Internal ID20863287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40835892..40836075hg38UCSC Ensembl
chr1:41301564..41301747hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060779
Samples
Known GenesKCNQ4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330133
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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