A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227171



Internal ID22369749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8497247..8504215hg38UCSC Ensembl
Outerchr1:8557307..8564275hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260380, nssv14260383, nssv14260376, nssv14260382, nssv14260378, nssv14260375, nssv14260377, nssv14260379, nssv14260381
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRERE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227171
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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