A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235580



Internal ID22373331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52231478..52266409hg38UCSC Ensembl
Outerchr15:52523675..52558606hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259114, nssv14259115
SamplesHG00731, HG00733
Known GenesMYO5C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235580
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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