A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172595



Internal ID22331883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74032460..74032523hg38UCSC Ensembl
chr2:74259587..74259650hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394139
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172595
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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