A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214202



Internal ID22360923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155176159..155192772hg38UCSC Ensembl
Outerchr1:155148635..155162563hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271149, nssv14271150, nssv14271151
SamplesHG00732, NA19240, HG00733
Known GenesMUC1, TRIM46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214202
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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