A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3931031



Internal ID21351100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294666..8294666hg38UCSC Ensembl
chr4:8296393..8296393hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190240
SamplesHG002
Known GenesHTRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3931031
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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