A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3935226



Internal ID21355295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199853..7199853hg38UCSC Ensembl
chr12:7352449..7352449hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15191854
SamplesHG002
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3935226
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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