A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237033



Internal ID22373770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1601292..1629414hg38UCSC Ensembl
Outerchr12:1710458..1738580hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255654, nssv14255648, nssv14255653, nssv14255651, nssv14255649, nssv14255652, nssv14255650
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesWNT5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237033
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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