A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177957



Internal ID22334724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138730088..138730382hg38UCSC Ensembl
chr2:139487658..139487952hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450089
SamplesHG00733
Known GenesNXPH2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3177957
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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