A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730965



Internal ID20506882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63852185..63852243hg38UCSC Ensembl
chr6:64562078..64562136hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284672
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730965
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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