A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742343



Internal ID20518325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80849266..80849450hg38UCSC Ensembl
chr7:80478582..80478766hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271508
Samples
Known GenesSEMA3C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742343
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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