A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171875



Internal ID22331513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46999081..46999365hg38UCSC Ensembl
chr7:47038679..47038963hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461295
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171875
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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