A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228728



Internal ID22370816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150166226..150200729hg38UCSC Ensembl
Outerchr6:150487362..150521865hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277180, nssv14277181
SamplesHG00731, HG00733
Known GenesPPP1R14C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228728
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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