A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279307



Internal ID22118819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93365981..93442791hg38UCSC Ensembl
Outerchr7:92995293..93072103hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219064
Supporting Variants
SamplesHG00512
Known GenesCALCR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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