A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742053



Internal ID20518032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39784524..39784644hg38UCSC Ensembl
chr1:40250196..40250316hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272953
Samples
Known GenesBMP8B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742053
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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