A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246077



Internal ID22376319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88494058..88511232hg38UCSC Ensembl
Outerchr16:88560466..88577640hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383913
hg193913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260850, nssv14260853, nssv14260851, nssv14260852
SamplesHG00512, NA19238, NA19240, HG00514
Known GenesZFPM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246077
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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