A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757419



Internal ID20533279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67311540..67311540hg38UCSC Ensembl
chr12:67705320..67705320hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263461
Samples
Known GenesCAND1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757419
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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