A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187715



Internal ID22339877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180873531..180873584hg38UCSC Ensembl
chr2:181738258..181738311hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4912n152
Supporting Variantsnssv14421512
SamplesHG00514
Known GenesSCHLAP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3187715
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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