A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227060



Internal ID22369668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237539918..237575679hg38UCSC Ensembl
Outerchr2:238448561..238484322hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265208, nssv14265206, nssv14265207
SamplesNA19238, NA19239, NA19240
Known GenesMLPH, PRLH, RAB17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227060
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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