A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170458



Internal ID22330760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60822986..60823294hg38UCSC Ensembl
chr8:61735545..61735853hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458509
SamplesHG00733
Known GenesCHD7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3170458
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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