A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274802



Internal ID22188450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:130422640..130487143hg38UCSC Ensembl
Outerchr6:130743785..130808288hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3864504
hg1964504
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208814
Supporting Variants
SamplesHG00731
Known GenesTMEM200A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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