A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460004



Internal ID22212544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202240827..202240899hg38UCSC Ensembl
chr1:202209955..202210027hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170728
Supporting Variants
SamplesHG00733
Known GenesLGR6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460004
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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