A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744030



Internal ID20520024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3143295..3143352hg38UCSC Ensembl
chr4:3145022..3145079hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263547
Samples
Known GenesHTT
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744030
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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