A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15190240



Internal ID21329088
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931031
Supporting Variants
SamplesHG002
Known GenesHTRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15190240
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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