A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202742



Internal ID21341543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40079153..40079153hg38UCSC Ensembl
chr6:40046892..40046892hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946723
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202742
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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