A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273969



Internal ID22186498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2508883..2523943hg38UCSC Ensembl
Outerchr1:2440322..2455382hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214976
Supporting Variants
SamplesHG00731
Known GenesPANK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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