A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939713



Internal ID21359782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112297116..112297116hg38UCSC Ensembl
chr12:112734920..112734920hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15192551
SamplesHG002
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939713
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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