A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15200470



Internal ID21339267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68261430..68261430hg38UCSC Ensembl
chr4:69127148..69127148hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939178
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15200470
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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