A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245543



Internal ID22376179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40516482..40576276hg38UCSC Ensembl
Outerchr15:40808681..40868475hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381851
hg191851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258545, nssv14258547, nssv14258546, nssv14258548
SamplesHG00512, HG00733, HG00513, HG00514
Known GenesC15orf57, MRPL42P5, RPUSD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245543
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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