A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446528



Internal ID22242242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9901444..9903874hg38UCSC Ensembl
chr17:9804761..9807191hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382431
hg192431
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193348
Supporting Variants
SamplesHG00733
Known GenesRCVRN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446528
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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