A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277855



Internal ID22277894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:863706..944895hg38UCSC Ensembl
Outerchr7:903343..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3813238
hg1913238
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229292
Supporting Variants
SamplesNA19239
Known GenesADAP1, GET4, SUN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277855
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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