A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203961



Internal ID22352886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135511163..135518688hg38UCSC Ensembl
chr8:136523406..136530931hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg387526
hg197526
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402878
SamplesNA19240
Known GenesKHDRBS3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203961
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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