A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248631



Internal ID22377037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40049636..40052649hg38UCSC Ensembl
Outerchr15:40341837..40344850hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259548, nssv14259542, nssv14259545, nssv14259549, nssv14259544, nssv14258675, nssv14259547, nssv14259546, nssv14259543
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSRP14-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248631
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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