A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272469



Internal ID22126073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206455602..206477591hg38UCSC Ensembl
Outerchr1:206628948..206650934hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225020
Supporting Variants
SamplesHG00512
Known GenesIKBKE, MIR6769B, SRGAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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