A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557197



Internal ID22426008
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 StatusM
Merged Variants
Supporting Variantsnssv14444112
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)nsv3557197
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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