A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15200322



Internal ID21339137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52130159..52130159hg38UCSC Ensembl
chr4:52996325..52996325hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951310
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15200322
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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