A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228126



Internal ID22370408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51682611..51712106hg38UCSC Ensembl
Outerchr3:51716627..51746122hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270644, nssv14270649, nssv14270646, nssv14270642, nssv14270648, nssv14270647, nssv14270641, nssv14270645, nssv14270643
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGRM2, TEX264
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228126
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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