A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176177



Internal ID22333749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171808201..171808312hg38UCSC Ensembl
chr2:172664711..172664822hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408355
SamplesNA19240
Known GenesSLC25A12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176177
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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