A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207123



Internal ID22355566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152702157..152717538hg38UCSC Ensembl
Outerchr6:153023292..153038673hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3815382
hg1915382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275995, nssv14275994, nssv14275999, nssv14275993, nssv14275997, nssv14275998, nssv14275996
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMYCT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207123
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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