A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949414



Internal ID21369485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130713298..130713298hg38UCSC Ensembl
chr12:131197843..131197843hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194182
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3949414
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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