A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173546



Internal ID22332375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091493..241091548hg38UCSC Ensembl
chr2:242030908..242030963hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5120n152
Supporting Variantsnssv14421933
SamplesHG00514
Known GenesMTERFD2, SNED1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3173546
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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