A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257456



Internal ID22191292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51764620..51776740hg38UCSC Ensembl
Outerchr13:52338756..52350876hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3812121
hg1912121
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212453
Supporting Variants
SamplesHG00731
Known GenesDHRS12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257456
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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