A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218940



Internal ID22364121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:865008..940927hg38UCSC Ensembl
Outerchr1:800388..876307hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273224
SamplesHG00731
Known GenesFAM41C, LOC100130417, SAMD11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218940
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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