A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213689



Internal ID22360560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5955869..6008172hg38UCSC Ensembl
Outerchr1:6015929..6068232hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260741, nssv14260740, nssv14260738, nssv14260742, nssv14260739, nssv14260743, nssv14260736, nssv14260737
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesKCNAB2, NPHP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213689
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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