A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444112



Internal ID22240137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25609533..25609533hg38UCSC Ensembl
chr13:26183671..26183671hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557197
Supporting Variants
SamplesHG00733
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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