A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282002



Internal ID22254812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10296954..10310101hg38UCSC Ensembl
Outerchr1:10357012..10370159hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3813148
hg1913148
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205068
Supporting Variants
SamplesNA19238
Known GenesKIF1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282002
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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