A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228527



Internal ID22370688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43644747..43669175hg38UCSC Ensembl
Outerchr1:44110418..44134846hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271487
SamplesHG00512
Known GenesKDM4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228527
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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