A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415692



Internal ID22151255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53302721..53302905hg38UCSC Ensembl
chr12:53696505..53696689hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207225
Supporting Variants
SamplesHG00514
Known GenesC12orf10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14415692
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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