A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258491



Internal ID22192483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:26936066..26969639hg38UCSC Ensembl
Outerchr15:27181213..27214786hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3833574
hg1933574
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229950
Supporting Variants
SamplesHG00731
Known GenesGABRA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258491
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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