A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209908



Internal ID22357914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237539918..237557217hg38UCSC Ensembl
Outerchr2:238448561..238465860hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3817300
hg1917300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263906, nssv14263910, nssv14263909, nssv14263907, nssv14263908
SamplesHG00512, NA19238, HG00732, NA19240, HG00733
Known GenesMLPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209908
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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