A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194920



Internal ID22345174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29557191..29560473hg38UCSC Ensembl
chr13:30131328..30134610hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383283
hg193283
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425772, nssv14425771
SamplesHG00514
Known GenesSLC7A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194920
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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