A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193798



Internal ID22344199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7852397..7852449hg38UCSC Ensembl
chr17:7755715..7755767hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455227
SamplesHG00733
Known GenesKDM6B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193798
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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