A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413546



Internal ID22147365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31429636..31429636hg38UCSC Ensembl
chr1:31902483..31902483hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542598
Supporting Variants
SamplesHG00514
Known GenesSERINC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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