A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253757



Internal ID22254632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10305874..10349916hg38UCSC Ensembl
Outerchr1:10365932..10409974hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3844043
hg1944043
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197873
Supporting Variants
SamplesNA19238
Known GenesKIF1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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