A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948220



Internal ID21368289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127634170..127634170hg38UCSC Ensembl
chr12:128118715..128118715hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15193386
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948220
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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