A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277467



Internal ID22253984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55061067..55068191hg38UCSC Ensembl
Outerchr7:55128760..55135884hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg387125
hg197125
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217549
Supporting Variants
SamplesNA19238
Known GenesEGFR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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