A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749932



Internal ID20525967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97722017..97725234hg38UCSC Ensembl
chr12:98115795..98119012hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383218
hg193218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274336
Samples
Known GenesLOC643711
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749932
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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