A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258547



Internal ID22145100
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245543
Supporting Variants
SamplesHG00514
Known GenesC15orf57, MRPL42P5, RPUSD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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