A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255334



Internal ID22200108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6002020..6008172hg38UCSC Ensembl
Outerchr1:6062080..6068232hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386153
hg196153
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198233
Supporting Variants
SamplesHG00732
Known GenesKCNAB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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