A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280072



Internal ID22190516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36308171..36360664hg38UCSC Ensembl
Outerchr7:36347780..36400273hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3854519
hg1954519
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213825
Supporting Variants
SamplesHG00731
Known GenesKIAA0895
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280072
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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