A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204070



Internal ID21342873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51428964..51428964hg38UCSC Ensembl
chr8:52341524..52341524hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949167
Supporting Variants
SamplesHG002
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204070
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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