A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277506



Internal ID22193303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:66390644..66402781hg38UCSC Ensembl
Outerchr7:65855631..65867768hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3812138
hg1912138
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223155
Supporting Variants
SamplesHG00731
Known GenesLINC00174
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277506
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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