A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273308



Internal ID22279876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82103794..82143388hg38UCSC Ensembl
Outerchr5:81399613..81439207hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3839595
hg1939595
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197302
Supporting Variants
SamplesNA19239
Known GenesATG10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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