A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443494



Internal ID22239607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14049941..14050090hg38UCSC Ensembl
chr12:14202875..14203024hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206548
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)nssv14443494
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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