A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241655



Internal ID22375028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121512946..121515846hg38UCSC Ensembl
Outerchr12:121950749..121953649hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381741
hg191741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256437, nssv14256436, nssv14256439, nssv14256442, nssv14256435, nssv14256440, nssv14256438, nssv14256434, nssv14256441
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKDM2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241655
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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