A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257047



Internal ID22255743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30729112..30733405hg38UCSC Ensembl
Outerchr13:31303249..31307542hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384294
hg194294
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229150
Supporting Variants
SamplesNA19238
Known GenesALOX5AP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257047
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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