A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228493



Internal ID22370661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237529538..237550519hg38UCSC Ensembl
Outerchr2:238438181..238459162hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386385
hg196385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266223, nssv14266224
SamplesHG00512, HG00514
Known GenesMLPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228493
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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