A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459237



Internal ID22252964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210389085..210389174hg38UCSC Ensembl
chr1:210562429..210562518hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185857
Supporting Variants
SamplesHG00733
Known GenesHHAT
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14459237
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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