A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257263



Internal ID22271616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30849627..30923084hg38UCSC Ensembl
Outerchr14:31318833..31392290hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3873458
hg1973458
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217203
Supporting Variants
SamplesNA19239
Known GenesCOCH, LOC100506071, STRN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257263
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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