A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428182



Internal ID22169342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128798317..128799079hg38UCSC Ensembl
chr7:128438371..128439133hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171226
Supporting Variants
SamplesHG00514
Known GenesCCDC136
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14428182
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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