A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427399



Internal ID22168220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27712073..27712303hg38UCSC Ensembl
chr7:27751692..27751922hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176136
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427399
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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