A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275333



Internal ID22198450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:143836690..143885781hg38UCSC Ensembl
Outerchr6:144157827..144206918hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3849092
hg1949092
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202058
Supporting Variants
SamplesHG00732
Known GenesLTV1, ZC2HC1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275333
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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