A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440686



Internal ID22237174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169379856..169380248hg38UCSC Ensembl
chr1:169349094..169349486hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177459
Supporting Variants
SamplesHG00733
Known GenesBLZF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440686
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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