A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461295



Internal ID22213873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46999081..46999365hg38UCSC Ensembl
chr7:47038679..47038963hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171875
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461295
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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