A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440078



Internal ID22236663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8497247..8497247hg38UCSC Ensembl
chr1:8557307..8557307hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537685
Supporting Variants
SamplesHG00733
Known GenesRERE
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440078
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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